dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs4244285
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr10:94781859 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A / G>C / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.1591252 (200360/1259134, GnomAD_exomes)A=0.149659 (41331/276168, ALFA)A=0.160248 (42416/264690, TOPMED) (+ 27 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYP2C19 : Synonymous Variant
- Publications
- 284 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
---|---|---|---|---|---|---|---|---|
Total | Global | 276168 | G=0.850341 | A=0.149659, T=0.000000 | 0.724559 | 0.023877 | 0.251564 | 11 |
European | Sub | 237092 | G=0.852977 | A=0.147023, T=0.000000 | 0.72846 | 0.022506 | 0.249034 | 4 |
African | Sub | 11456 | G=0.82900 | A=0.17100, T=0.00000 | 0.690992 | 0.032996 | 0.276013 | 3 |
African Others | Sub | 434 | G=0.820 | A=0.180, T=0.000 | 0.668203 | 0.02765 | 0.304147 | 0 |
African American | Sub | 11022 | G=0.82934 | A=0.17066, T=0.00000 | 0.691889 | 0.033206 | 0.274905 | 3 |
Asian | Sub | 3762 | G=0.7081 | A=0.2919, T=0.0000 | 0.504519 | 0.088251 | 0.40723 | 0 |
East Asian | Sub | 3020 | G=0.7199 | A=0.2801, T=0.0000 | 0.523179 | 0.083444 | 0.393377 | 1 |
Other Asian | Sub | 742 | G=0.660 | A=0.340, T=0.000 | 0.428571 | 0.107817 | 0.463612 | 0 |
Latin American 1 | Sub | 1380 | G=0.8384 | A=0.1616, T=0.0000 | 0.698551 | 0.021739 | 0.27971 | 0 |
Latin American 2 | Sub | 6608 | G=0.8913 | A=0.1087, T=0.0000 | 0.793281 | 0.010593 | 0.196126 | 0 |
South Asian | Sub | 360 | G=0.633 | A=0.367, T=0.000 | 0.405556 | 0.138889 | 0.455556 | 0 |
Other | Sub | 15510 | G=0.84894 | A=0.15106, T=0.00000 | 0.723533 | 0.025661 | 0.250806 | 2 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
gnomAD v4 - Exomes | Global | Study-wide | 1259134 | G=0.8408748 | A=0.1591252 |
gnomAD v4 - Exomes | European | Sub | 1094414 | G=0.8526344 | A=0.1473656 |
gnomAD v4 - Exomes | South Asian | Sub | 60616 | G=0.68063 | A=0.31937 |
gnomAD v4 - Exomes | East Asian | Sub | 31626 | G=0.69775 | A=0.30225 |
gnomAD v4 - Exomes | African | Sub | 25872 | G=0.81953 | A=0.18047 |
gnomAD v4 - Exomes | Ashkenazi Jewish | Sub | 21636 | G=0.86754 | A=0.13246 |
gnomAD v4 - Exomes | American | Sub | 19654 | G=0.89610 | A=0.10390 |
gnomAD v4 - Exomes | Middle Eastern | sub | 5316 | G=0.8898 | A=0.1102 |
Allele Frequency Aggregator | Total | Global | 276168 | G=0.850341 | A=0.149659, T=0.000000 |
Allele Frequency Aggregator | European | Sub | 237092 | G=0.852977 | A=0.147023, T=0.000000 |
Allele Frequency Aggregator | Other | Sub | 15510 | G=0.84894 | A=0.15106, T=0.00000 |
Allele Frequency Aggregator | African | Sub | 11456 | G=0.82900 | A=0.17100, T=0.00000 |
Allele Frequency Aggregator | Latin American 2 | Sub | 6608 | G=0.8913 | A=0.1087, T=0.0000 |
Allele Frequency Aggregator | Asian | Sub | 3762 | G=0.7081 | A=0.2919, T=0.0000 |
Allele Frequency Aggregator | Latin American 1 | Sub | 1380 | G=0.8384 | A=0.1616, T=0.0000 |
Allele Frequency Aggregator | South Asian | Sub | 360 | G=0.633 | A=0.367, T=0.000 |
TopMed | Global | Study-wide | 264690 | G=0.839752 | A=0.160248 |
gnomAD v4 - Genomes | Global | Study-wide | 148476 | G=0.831939 | A=0.168061 |
gnomAD v4 - Genomes | European | Sub | 78244 | G=0.84694 | A=0.15306 |
gnomAD v4 - Genomes | African | Sub | 41316 | G=0.82288 | A=0.17712 |
gnomAD v4 - Genomes | American | Sub | 15226 | G=0.86989 | A=0.13011 |
gnomAD v4 - Genomes | East Asian | Sub | 5156 | G=0.6881 | A=0.3119 |
gnomAD v4 - Genomes | South Asian | Sub | 4780 | G=0.6678 | A=0.3322 |
gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3462 | G=0.8680 | A=0.1320 |
gnomAD v4 - Genomes | Middle Eastern | sub | 292 | G=0.914 | A=0.086 |
ExAC | Global | Study-wide | 119422 | G=0.814373 | A=0.185627 |
ExAC | Europe | Sub | 72574 | G=0.84909 | A=0.15091 |
ExAC | Asian | Sub | 24618 | G=0.67044 | A=0.32956 |
ExAC | American | Sub | 11340 | G=0.89921 | A=0.10079 |
ExAC | African | Sub | 9990 | G=0.8190 | A=0.1810 |
ExAC | Other | Sub | 900 | G=0.831 | A=0.169 |
The PAGE Study | Global | Study-wide | 78700 | G=0.82587 | A=0.17413 |
The PAGE Study | AfricanAmerican | Sub | 32516 | G=0.82283 | A=0.17717 |
The PAGE Study | Mexican | Sub | 10808 | G=0.88166 | A=0.11834 |
The PAGE Study | Asian | Sub | 8318 | G=0.6970 | A=0.3030 |
The PAGE Study | PuertoRican | Sub | 7918 | G=0.8603 | A=0.1397 |
The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.7949 | A=0.2051 |
The PAGE Study | Cuban | Sub | 4230 | G=0.8619 | A=0.1381 |
The PAGE Study | Dominican | Sub | 3828 | G=0.8433 | A=0.1567 |
The PAGE Study | CentralAmerican | Sub | 2450 | G=0.9090 | A=0.0910 |
The PAGE Study | SouthAmerican | Sub | 1982 | G=0.8875 | A=0.1125 |
The PAGE Study | NativeAmerican | Sub | 1260 | G=0.8587 | A=0.1413 |
The PAGE Study | SouthAsian | Sub | 856 | G=0.650 | A=0.350 |
38KJPN | JAPANESE | Study-wide | 77340 | G=0.70031 | A=0.29969 |
GO Exome Sequencing Project | Global | Study-wide | 13002 | G=0.84587 | A=0.15413 |
GO Exome Sequencing Project | European American | Sub | 8598 | G=0.8516 | A=0.1484 |
GO Exome Sequencing Project | African American | Sub | 4404 | G=0.8347 | A=0.1653 |
Korean Genome Project 4K | KOREAN | Study-wide | 7216 | G=0.7233 | A=0.2767 |
1000Genomes_30X | Global | Study-wide | 6404 | G=0.7845 | A=0.2155 |
1000Genomes_30X | African | Sub | 1786 | G=0.8387 | A=0.1613 |
1000Genomes_30X | Europe | Sub | 1266 | G=0.8578 | A=0.1422 |
1000Genomes_30X | South Asian | Sub | 1202 | G=0.6448 | A=0.3552 |
1000Genomes_30X | East Asian | Sub | 1170 | G=0.6778 | A=0.3222 |
1000Genomes_30X | American | Sub | 980 | G=0.890 | A=0.110 |
1000Genomes | Global | Study-wide | 5008 | G=0.7786 | A=0.2214 |
1000Genomes | African | Sub | 1322 | G=0.8298 | A=0.1702 |
1000Genomes | East Asian | Sub | 1008 | G=0.6875 | A=0.3125 |
1000Genomes | Europe | Sub | 1006 | G=0.8549 | A=0.1451 |
1000Genomes | South Asian | Sub | 978 | G=0.642 | A=0.358 |
1000Genomes | American | Sub | 694 | G=0.895 | A=0.105 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.8629 | A=0.1371 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.8492 | A=0.1508 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.8482 | A=0.1518 |
MxGDAR/Encodat-PGx | Global | Study-wide | 3280 | G=0.8939 | A=0.1061 |
MxGDAR/Encodat-PGx | MxGDAR | Sub | 3280 | G=0.8939 | A=0.1061 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.7235 | A=0.2765 |
Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.7140 | A=0.2860 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.858 | A=0.142 |
CNV burdens in cranial meningiomas | Global | Study-wide | 788 | G=0.713 | A=0.287 |
CNV burdens in cranial meningiomas | CRM | Sub | 788 | G=0.713 | A=0.287 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 611 | G=0.700 | A=0.300 |
Northern Sweden | ACPOP | Study-wide | 600 | G=0.853 | A=0.147 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.818 | A=0.182 |
PharmGKB Aggregated | Global | Study-wide | 410 | G=0.820 | A=0.180 |
PharmGKB Aggregated | PA150051974 | Sub | 352 | G=0.807 | A=0.193 |
PharmGKB Aggregated | PA130150462 | Sub | 58 | G=0.90 | A=0.10 |
HapMap | Global | Study-wide | 322 | G=0.814 | A=0.186 |
HapMap | African | Sub | 118 | G=0.856 | A=0.144 |
HapMap | American | Sub | 116 | G=0.845 | A=0.155 |
HapMap | Asian | Sub | 88 | G=0.72 | A=0.28 |
FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.816 | A=0.184 |
Qatari | Global | Study-wide | 216 | G=0.907 | A=0.093 |
SGDP_PRJ | Global | Study-wide | 174 | G=0.397 | A=0.603 |
The Danish reference pan genome | Danish | Study-wide | 40 | G=0.80 | A=0.20 |
Siberian | Global | Study-wide | 14 | G=0.50 | A=0.50 |
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Sequence name | Change |
---|---|
GRCh38.p14 chr 10 | NC_000010.11:g.94781859G>A |
GRCh38.p14 chr 10 | NC_000010.11:g.94781859G>C |
GRCh38.p14 chr 10 | NC_000010.11:g.94781859G>T |
GRCh37.p13 chr 10 | NC_000010.10:g.96541616G>A |
GRCh37.p13 chr 10 | NC_000010.10:g.96541616G>C |
GRCh37.p13 chr 10 | NC_000010.10:g.96541616G>T |
CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.24179G>A |
CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.24179G>C |
CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.24179G>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CYP2C19 transcript | NM_000769.4:c.681G>A | P [CCG] > P [CCA] | Coding Sequence Variant |
cytochrome P450 2C19 | NP_000760.1:p.Pro227= | P (Pro) > P (Pro) | Synonymous Variant |
CYP2C19 transcript | NM_000769.4:c.681G>C | P [CCG] > P [CCC] | Coding Sequence Variant |
cytochrome P450 2C19 | NP_000760.1:p.Pro227= | P (Pro) > P (Pro) | Synonymous Variant |
CYP2C19 transcript | NM_000769.4:c.681G>T | P [CCG] > P [CCT] | Coding Sequence Variant |
cytochrome P450 2C19 | NP_000760.1:p.Pro227= | P (Pro) > P (Pro) | Synonymous Variant |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000018393.33 | Mephenytoin, poor metabolism of | Drug-Response |
RCV000018394.37 | Proguanil, poor metabolism of | Drug-Response |
RCV000018395.35 | Clopidogrel response | Drug-Response |
RCV000352637.13 | not provided | Other |
RCV000610614.9 | not specified | Likely-Benign |
RCV000782440.10 | Clopidogrel response | Drug-Response |
RCV000782448.11 | Clopidogrel response | Drug-Response |
RCV000782449.10 | Clopidogrel response | Drug-Response |
RCV000782450.9 | Clopidogrel response | Drug-Response |
RCV000782451.10 | Clopidogrel response | Drug-Response |
RCV000782452.10 | Clopidogrel response | Drug-Response |
RCV000782453.10 | Clopidogrel response | Drug-Response |
RCV000782488.10 | Citalopram response | Drug-Response |
RCV000782513.10 | Escitalopram response | Drug-Response |
RCV000782514.11 | Citalopram response | Drug-Response |
RCV000782515.11 | Escitalopram response | Drug-Response |
RCV000782516.10 | Citalopram response | Drug-Response |
RCV000782517.10 | Escitalopram response | Drug-Response |
RCV000782518.10 | Citalopram response | Drug-Response |
RCV000782519.10 | Escitalopram response | Drug-Response |
RCV000782634.10 | Escitalopram response | Drug-Response |
RCV000782635.10 | Citalopram response | Drug-Response |
RCV000782636.10 | Escitalopram response | Drug-Response |
RCV000782637.10 | Citalopram response | Drug-Response |
RCV000782638.10 | Escitalopram response | Drug-Response |
RCV000782639.10 | Citalopram response | Drug-Response |
RCV000782640.10 | Escitalopram response | Drug-Response |
RCV000782690.10 | Escitalopram response | Drug-Response |
RCV000782691.10 | Citalopram response | Drug-Response |
RCV000782692.10 | Escitalopram response | Drug-Response |
RCV000782693.10 | Citalopram response | Drug-Response |
RCV000782694.10 | Escitalopram response | Drug-Response |
RCV000782695.10 | Citalopram response | Drug-Response |
RCV000782696.10 | Escitalopram response | Drug-Response |
RCV000782697.9 | Citalopram response | Drug-Response |
RCV000782698.10 | Escitalopram response | Drug-Response |
RCV000782699.10 | Citalopram response | Drug-Response |
RCV000782700.10 | Escitalopram response | Drug-Response |
RCV000782880.10 | Citalopram response | Drug-Response |
RCV000782881.10 | Escitalopram response | Drug-Response |
RCV000782882.10 | Citalopram response | Drug-Response |
RCV000782883.10 | Escitalopram response | Drug-Response |
RCV000782884.10 | Citalopram response | Drug-Response |
RCV000782885.10 | Escitalopram response | Drug-Response |
RCV000782886.10 | Citalopram response | Drug-Response |
RCV000782887.10 | Escitalopram response | Drug-Response |
RCV000783140.10 | Sertraline response | Drug-Response |
RCV000783141.10 | Sertraline response | Drug-Response |
RCV000783142.10 | Sertraline response | Drug-Response |
RCV000783143.10 | Sertraline response | Drug-Response |
RCV000783144.10 | Sertraline response | Drug-Response |
RCV000783145.10 | Sertraline response | Drug-Response |
RCV000783171.10 | Sertraline response | Drug-Response |
RCV000783172.10 | Sertraline response | Drug-Response |
RCV000783173.10 | Sertraline response | Drug-Response |
RCV000783174.10 | Sertraline response | Drug-Response |
RCV000783175.10 | Sertraline response | Drug-Response |
RCV000783269.10 | Sertraline response | Drug-Response |
RCV000783270.10 | Sertraline response | Drug-Response |
RCV000783415.10 | Voriconazole response | Drug-Response |
RCV000783416.10 | Voriconazole response | Drug-Response |
RCV000783417.10 | Voriconazole response | Drug-Response |
RCV000783418.10 | Voriconazole response | Drug-Response |
RCV000783500.10 | Voriconazole response | Drug-Response |
RCV000783514.10 | Voriconazole response | Drug-Response |
RCV000783515.10 | Voriconazole response | Drug-Response |
RCV000783575.10 | Voriconazole response | Drug-Response |
RCV000783576.10 | Voriconazole response | Drug-Response |
RCV000783577.10 | Voriconazole response | Drug-Response |
RCV000783578.10 | Voriconazole response | Drug-Response |
RCV000783613.10 | Voriconazole response | Drug-Response |
RCV000783614.10 | Voriconazole response | Drug-Response |
RCV000783615.10 | Voriconazole response | Drug-Response |
RCV000783616.9 | Voriconazole response | Drug-Response |
RCV000783617.10 | Voriconazole response | Drug-Response |
RCV000783618.10 | Voriconazole response | Drug-Response |
RCV000783619.10 | Voriconazole response | Drug-Response |
RCV000783620.10 | Voriconazole response | Drug-Response |
RCV000783648.10 | CYP2C19: no function | Drug-Response |
RCV000783666.11 | Clopidogrel response | Drug-Response |
RCV000783672.10 | Clopidogrel response | Drug-Response |
RCV000783673.10 | Clopidogrel response | Drug-Response |
RCV000783712.10 | Escitalopram response | Drug-Response |
RCV000783739.10 | Citalopram response | Drug-Response |
RCV000783740.10 | Escitalopram response | Drug-Response |
RCV000783741.10 | Citalopram response | Drug-Response |
RCV000783742.10 | Escitalopram response | Drug-Response |
RCV000783743.10 | Citalopram response | Drug-Response |
RCV000783864.10 | Citalopram response | Drug-Response |
RCV000783865.10 | Escitalopram response | Drug-Response |
RCV000783866.10 | Citalopram response | Drug-Response |
RCV000783867.10 | Escitalopram response | Drug-Response |
RCV000783868.10 | Citalopram response | Drug-Response |
RCV000783922.11 | Citalopram response | Drug-Response |
RCV000783923.11 | Escitalopram response | Drug-Response |
RCV000783924.10 | Citalopram response | Drug-Response |
RCV000783925.9 | Escitalopram response | Drug-Response |
RCV000783926.10 | Citalopram response | Drug-Response |
RCV000783927.10 | Escitalopram response | Drug-Response |
RCV000783928.10 | Citalopram response | Drug-Response |
RCV000783929.10 | Escitalopram response | Drug-Response |
RCV000783930.10 | Citalopram response | Drug-Response |
RCV000783931.10 | Escitalopram response | Drug-Response |
RCV000783932.10 | Citalopram response | Drug-Response |
RCV000784107.10 | Citalopram response | Drug-Response |
RCV000784108.10 | Escitalopram response | Drug-Response |
RCV000784109.10 | Citalopram response | Drug-Response |
RCV000784110.10 | Escitalopram response | Drug-Response |
RCV000784111.10 | Citalopram response | Drug-Response |
RCV000784112.10 | Escitalopram response | Drug-Response |
RCV000784113.10 | Citalopram response | Drug-Response |
RCV000784114.10 | Escitalopram response | Drug-Response |
RCV000784115.10 | Citalopram response | Drug-Response |
RCV000784116.10 | Escitalopram response | Drug-Response |
RCV000784117.10 | Citalopram response | Drug-Response |
RCV000784118.10 | Escitalopram response | Drug-Response |
RCV000784302.10 | Sertraline response | Drug-Response |
RCV000784312.10 | Sertraline response | Drug-Response |
RCV000784313.10 | Sertraline response | Drug-Response |
RCV000784314.10 | Sertraline response | Drug-Response |
RCV000784315.11 | Sertraline response | Drug-Response |
RCV000784316.10 | Sertraline response | Drug-Response |
RCV000784317.10 | Sertraline response | Drug-Response |
RCV000784403.11 | Sertraline response | Drug-Response |
RCV000784404.10 | Sertraline response | Drug-Response |
RCV000784405.10 | Sertraline response | Drug-Response |
RCV000784406.10 | Sertraline response | Drug-Response |
RCV000784407.10 | Sertraline response | Drug-Response |
RCV000784408.9 | Sertraline response | Drug-Response |
RCV000784498.10 | Sertraline response | Drug-Response |
RCV000784499.10 | Sertraline response | Drug-Response |
RCV000784500.10 | Sertraline response | Drug-Response |
RCV000784501.10 | Sertraline response | Drug-Response |
RCV000784502.10 | Sertraline response | Drug-Response |
RCV000784503.10 | Sertraline response | Drug-Response |
RCV000784504.10 | Sertraline response | Drug-Response |
RCV000784505.10 | Sertraline response | Drug-Response |
RCV000784648.10 | Voriconazole response | Drug-Response |
RCV000784649.10 | Voriconazole response | Drug-Response |
RCV000784650.10 | Voriconazole response | Drug-Response |
RCV000784651.10 | Voriconazole response | Drug-Response |
RCV000784652.10 | Voriconazole response | Drug-Response |
RCV000784653.10 | Voriconazole response | Drug-Response |
RCV000784749.10 | Voriconazole response | Drug-Response |
RCV000784750.10 | Voriconazole response | Drug-Response |
RCV000784751.10 | Voriconazole response | Drug-Response |
RCV000784752.11 | Voriconazole response | Drug-Response |
RCV000784797.10 | Voriconazole response | Drug-Response |
RCV000784798.10 | Voriconazole response | Drug-Response |
RCV000784838.11 | Voriconazole response | Drug-Response |
RCV000784839.10 | Voriconazole response | Drug-Response |
RCV000784840.10 | Voriconazole response | Drug-Response |
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV002280383.1 | Acute coronary syndrome | Drug-Response |
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
Placement | G= | A | C | T |
---|---|---|---|---|
GRCh38.p14 chr 10 | NC_000010.11:g.94781859= | NC_000010.11:g.94781859G>A | NC_000010.11:g.94781859G>C | NC_000010.11:g.94781859G>T |
GRCh37.p13 chr 10 | NC_000010.10:g.96541616= | NC_000010.10:g.96541616G>A | NC_000010.10:g.96541616G>C | NC_000010.10:g.96541616G>T |
CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.24179= | NG_008384.3:g.24179G>A | NG_008384.3:g.24179G>C | NG_008384.3:g.24179G>T |
CYP2C19 transcript | NM_000769.4:c.681= | NM_000769.4:c.681G>A | NM_000769.4:c.681G>C | NM_000769.4:c.681G>T |
CYP2C19 transcript | NM_000769.3:c.681= | NM_000769.3:c.681G>A | NM_000769.3:c.681G>C | NM_000769.3:c.681G>T |
CYP2C19 transcript | NM_000769.2:c.681= | NM_000769.2:c.681G>A | NM_000769.2:c.681G>C | NM_000769.2:c.681G>T |
CYP2C19 transcript | NM_000769.1:c.681= | NM_000769.1:c.681G>A | NM_000769.1:c.681G>C | NM_000769.1:c.681G>T |
cytochrome P450 2C19 | NP_000760.1:p.Pro227= | NP_000760.1:p.Pro227= | NP_000760.1:p.Pro227= | NP_000760.1:p.Pro227= |
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | SC_JCM | ss6273387 | Sep 28, 2016 (149) |
2 | SSAHASNP | ss20712232 | Apr 05, 2004 (121) |
3 | PERLEGEN | ss24092249 | Sep 20, 2004 (123) |
4 | EGP_SNPS | ss28531447 | Dec 02, 2004 (126) |
5 | BIOVENTURES | ss32475261 | May 24, 2005 (125) |
6 | ABI | ss38568858 | Mar 11, 2006 (126) |
7 | ILLUMINA | ss65746807 | Oct 16, 2006 (127) |
8 | EGP_SNPS | ss66862485 | Dec 01, 2006 (127) |
9 | PHARMGKB_COBRA | ss69370430 | May 17, 2007 (127) |
10 | SI_EXO | ss71644820 | May 17, 2007 (127) |
11 | CGM_KYOTO | ss76860176 | Dec 07, 2007 (129) |
12 | CCHMC-CAE-PGCORE | ss79314148 | Dec 15, 2007 (130) |
13 | PHARMGKB_AB_DME | ss84155548 | Dec 15, 2007 (130) |
14 | HUMANGENOME_JCVI | ss97576553 | Feb 06, 2009 (130) |
15 | 1000GENOMES | ss109668150 | Jan 24, 2009 (130) |
16 | ENSEMBL | ss137888266 | Dec 01, 2009 (131) |
17 | SEATTLESEQ | ss159721122 | Dec 01, 2009 (131) |
18 | ILLUMINA | ss160667511 | Dec 01, 2009 (131) |
19 | 1000GENOMES | ss224884225 | Jul 14, 2010 (132) |
20 | 1000GENOMES | ss235292670 | Jul 15, 2010 (132) |
21 | 1000GENOMES | ss241975895 | Jul 15, 2010 (132) |
22 | ILLUMINA | ss244267390 | Jul 04, 2010 (132) |
23 | BL | ss254534604 | May 09, 2011 (134) |
24 | GMI | ss280732378 | May 04, 2012 (137) |
25 | PJP | ss290909232 | May 09, 2011 (134) |
26 | NHLBI-ESP | ss342304122 | May 09, 2011 (134) |
27 | ILLUMINA | ss480908553 | May 04, 2012 (137) |
28 | ILLUMINA | ss480927569 | May 04, 2012 (137) |
29 | ILLUMINA | ss481884803 | Sep 08, 2015 (146) |
30 | ILLUMINA | ss485249287 | May 04, 2012 (137) |
31 | 1000GENOMES | ss491001642 | May 04, 2012 (137) |
32 | CLINSEQ_SNP | ss491629939 | May 04, 2012 (137) |
33 | ILLUMINA | ss537221024 | Sep 08, 2015 (146) |
34 | SSMP | ss657184049 | Apr 25, 2013 (138) |
35 | ILLUMINA | ss778532112 | Sep 08, 2015 (146) |
36 | ILLUMINA | ss783070592 | Sep 08, 2015 (146) |
37 | ILLUMINA | ss784028424 | Sep 08, 2015 (146) |
38 | ILLUMINA | ss832328705 | Sep 08, 2015 (146) |
39 | ILLUMINA | ss833988650 | Sep 08, 2015 (146) |
40 | JMKIDD_LAB | ss974475596 | Aug 21, 2014 (142) |
41 | EVA-GONL | ss987804539 | Aug 21, 2014 (142) |
42 | JMKIDD_LAB | ss1067514945 | Aug 21, 2014 (142) |
43 | JMKIDD_LAB | ss1077215449 | Aug 21, 2014 (142) |
44 | 1000GENOMES | ss1338623797 | Aug 21, 2014 (142) |
45 | OMIM-CURATED-RECORDS | ss1505810974 | Oct 12, 2018 (152) |
46 | EVA_GENOME_DK | ss1575296741 | Apr 01, 2015 (144) |
47 | EVA_FINRISK | ss1584069479 | Apr 01, 2015 (144) |
48 | EVA_DECODE | ss1597477850 | Apr 01, 2015 (144) |
49 | EVA_UK10K_ALSPAC | ss1625196200 | Apr 01, 2015 (144) |
50 | EVA_UK10K_TWINSUK | ss1668190233 | Apr 01, 2015 (144) |
51 | EVA_EXAC | ss1690011937 | Apr 01, 2015 (144) |
52 | EVA_MGP | ss1711265773 | Apr 01, 2015 (144) |
53 | ILLUMINA | ss1751988282 | Sep 08, 2015 (146) |
54 | WEILL_CORNELL_DGM | ss1931170553 | Feb 12, 2016 (147) |
55 | ILLUMINA | ss1946289782 | Feb 12, 2016 (147) |
56 | ILLUMINA | ss1959284952 | Feb 12, 2016 (147) |
57 | GENOMED | ss1967199824 | Jul 19, 2016 (147) |
58 | JJLAB | ss2026313671 | Sep 14, 2016 (149) |
59 | USC_VALOUEV | ss2154590332 | Nov 08, 2017 (151) |
60 | HUMAN_LONGEVITY | ss2177148642 | Dec 20, 2016 (150) |
61 | SYSTEMSBIOZJU | ss2627625777 | Nov 08, 2017 (151) |
62 | ILLUMINA | ss2632748384 | Nov 08, 2017 (151) |
63 | GRF | ss2698843075 | Nov 08, 2017 (151) |
64 | ILLUMINA | ss2710661490 | Nov 08, 2017 (151) |
65 | GNOMAD | ss2738420845 | Nov 08, 2017 (151) |
66 | GNOMAD | ss2748441509 | Nov 08, 2017 (151) |
67 | GNOMAD | ss2892128580 | Nov 08, 2017 (151) |
68 | SWEGEN | ss3006966091 | Nov 08, 2017 (151) |
69 | BIOINF_KMB_FNS_UNIBA | ss3026946939 | Nov 08, 2017 (151) |
70 | CSIRBIOHTS | ss3029638026 | Nov 08, 2017 (151) |
71 | CSHL | ss3349261285 | Nov 08, 2017 (151) |
72 | ILLUMINA | ss3625584961 | Oct 12, 2018 (152) |
73 | ILLUMINA | ss3626509917 | Oct 12, 2018 (152) |
74 | ILLUMINA | ss3630771631 | Oct 12, 2018 (152) |
75 | ILLUMINA | ss3632960313 | Oct 12, 2018 (152) |
76 | ILLUMINA | ss3633657957 | Oct 12, 2018 (152) |
77 | ILLUMINA | ss3634417821 | Oct 12, 2018 (152) |
78 | ILLUMINA | ss3635350236 | Oct 12, 2018 (152) |
79 | ILLUMINA | ss3636102025 | Oct 12, 2018 (152) |
80 | ILLUMINA | ss3637100941 | Oct 12, 2018 (152) |
81 | ILLUMINA | ss3640125162 | Oct 12, 2018 (152) |
82 | ILLUMINA | ss3644542529 | Oct 12, 2018 (152) |
83 | OMUKHERJEE_ADBS | ss3646413622 | Oct 12, 2018 (152) |
84 | URBANLAB | ss3649441579 | Oct 12, 2018 (152) |
85 | EGCUT_WGS | ss3674378253 | Jul 13, 2019 (153) |
86 | EVA_DECODE | ss3690461995 | Jul 13, 2019 (153) |
87 | ACPOP | ss3737585613 | Jul 13, 2019 (153) |
88 | ILLUMINA | ss3744074659 | Jul 13, 2019 (153) |
89 | ILLUMINA | ss3744718792 | Jul 13, 2019 (153) |
90 | EVA | ss3748468432 | Jul 13, 2019 (153) |
91 | PAGE_CC | ss3771575725 | Jul 13, 2019 (153) |
92 | ILLUMINA | ss3772219148 | Jul 13, 2019 (153) |
93 | KHV_HUMAN_GENOMES | ss3813834603 | Jul 13, 2019 (153) |
94 | EVA | ss3824540950 | Apr 26, 2020 (154) |
95 | EVA | ss3825780773 | Apr 26, 2020 (154) |
96 | EVA | ss3832276858 | Apr 26, 2020 (154) |
97 | EVA | ss3839679578 | Apr 26, 2020 (154) |
98 | EVA | ss3845153244 | Apr 26, 2020 (154) |
99 | SGDP_PRJ | ss3874827656 | Apr 26, 2020 (154) |
100 | KRGDB | ss3922955812 | Apr 26, 2020 (154) |
101 | KOGIC | ss3968458465 | Apr 26, 2020 (154) |
102 | FSA-LAB | ss3983983378 | Apr 26, 2021 (155) |
103 | EVA | ss3984449114 | Apr 26, 2021 (155) |
104 | EVA | ss3984639037 | Apr 26, 2021 (155) |
105 | EVA | ss3986493465 | Apr 26, 2021 (155) |
106 | TOPMED | ss4862628816 | Apr 26, 2021 (155) |
107 | TOMMO_GENOMICS | ss6114202115 | Nov 01, 2024 (157) |
108 | EVA | ss6253826834 | Nov 01, 2024 (157) |
109 | EVA | ss6307410302 | Nov 01, 2024 (157) |
110 | EVA | ss6322063341 | Nov 01, 2024 (157) |
111 | EVA | ss6322395607 | Nov 01, 2024 (157) |
112 | EVA | ss6326442677 | Nov 01, 2024 (157) |
113 | EVA | ss6332060696 | Nov 01, 2024 (157) |
114 | YEGNASUBRAMANIAN_LAB | ss6343187327 | Nov 01, 2024 (157) |
115 | EVA | ss6349787544 | Nov 01, 2024 (157) |
116 | EVA | ss6349997714 | Nov 01, 2024 (157) |
117 | KOGIC | ss6382289085 | Nov 01, 2024 (157) |
118 | EVA | ss6403982928 | Nov 01, 2024 (157) |
119 | EVA | ss6404050381 | Nov 01, 2024 (157) |
120 | EVA | ss6404454508 | Nov 01, 2024 (157) |
121 | GNOMAD | ss6440423965 | Nov 01, 2024 (157) |
122 | GNOMAD | ss6859879643 | Nov 01, 2024 (157) |
123 | TOMMO_GENOMICS | ss8198969276 | Nov 01, 2024 (157) |
124 | EVA | ss8236886080 | Nov 01, 2024 (157) |
125 | EVA | ss8237481903 | Nov 01, 2024 (157) |
126 | EVA | ss8237481904 | Nov 01, 2024 (157) |
127 | EVA | ss8237481905 | Nov 01, 2024 (157) |
128 | EVA | ss8237481906 | Nov 01, 2024 (157) |
129 | QINSY-LAB | ss8237630501 | Nov 01, 2024 (157) |
130 | EVA | ss8237655806 | Nov 01, 2024 (157) |
131 | 1000G_HIGH_COVERAGE | ss8285088098 | Nov 01, 2024 (157) |
132 | TRAN_CS_UWATERLOO | ss8314429328 | Nov 01, 2024 (157) |
133 | EVA | ss8315494519 | Nov 01, 2024 (157) |
134 | HUGCELL_USP | ss8480548060 | Nov 01, 2024 (157) |
135 | EVA | ss8510129403 | Nov 01, 2024 (157) |
136 | EVA | ss8512473898 | Nov 01, 2024 (157) |
137 | 1000G_HIGH_COVERAGE | ss8579565104 | Nov 01, 2024 (157) |
138 | EVA | ss8623950097 | Nov 01, 2024 (157) |
139 | EVA | ss8624011473 | Nov 01, 2024 (157) |
140 | SANFORD_IMAGENETICS | ss8624255707 | Nov 01, 2024 (157) |
141 | SANFORD_IMAGENETICS | ss8649886005 | Nov 01, 2024 (157) |
142 | TOMMO_GENOMICS | ss8745187076 | Nov 01, 2024 (157) |
143 | EVA | ss8799403698 | Nov 01, 2024 (157) |
144 | EVA | ss8799821536 | Nov 01, 2024 (157) |
145 | EVA | ss8800062047 | Nov 01, 2024 (157) |
146 | EVA | ss8800161207 | Nov 01, 2024 (157) |
147 | YY_MCH | ss8811792439 | Nov 01, 2024 (157) |
148 | EVA | ss8824807546 | Nov 01, 2024 (157) |
149 | EVA | ss8847378110 | Nov 01, 2024 (157) |
150 | EVA | ss8847605634 | Nov 01, 2024 (157) |
151 | EVA | ss8848304486 | Nov 01, 2024 (157) |
152 | EVA | ss8849697153 | Nov 01, 2024 (157) |
153 | EVA | ss8880086142 | Nov 01, 2024 (157) |
154 | EVA | ss8941172579 | Nov 01, 2024 (157) |
155 | CAD-JSPH | ss8981325922 | Nov 01, 2024 (157) |
156 | EVA | ss8981728093 | Nov 01, 2024 (157) |
157 | EVA | ss8981728094 | Nov 01, 2024 (157) |
158 | EVA | ss8982040320 | Nov 01, 2024 (157) |
159 | MYSEQ1_SNP | ss8982064789 | Nov 01, 2024 (157) |
160 | EVA | ss8982151829 | Nov 01, 2024 (157) |
161 | 1000Genomes | NC_000010.10 - 96541616 | Oct 12, 2018 (152) |
162 | 1000Genomes_30X | NC_000010.11 - 94781859 | Nov 01, 2024 (157) |
163 | The Avon Longitudinal Study of Parents and Children | NC_000010.10 - 96541616 | Oct 12, 2018 (152) |
164 | Genetic variation in the Estonian population | NC_000010.10 - 96541616 | Oct 12, 2018 (152) |
165 | ExAC | NC_000010.10 - 96541616 | Oct 12, 2018 (152) |
166 | FINRISK | NC_000010.10 - 96541616 | Apr 26, 2020 (154) |
167 | The Danish reference pan genome | NC_000010.10 - 96541616 | Apr 26, 2020 (154) |
168 | gnomAD v4 - Exomes | NC_000010.11 - 94781859 | Nov 01, 2024 (157) |
169 | gnomAD v4 - Genomes | NC_000010.11 - 94781859 | Nov 01, 2024 (157) |
170 | GO Exome Sequencing Project | NC_000010.10 - 96541616 | Oct 12, 2018 (152) |
171 | Genome of the Netherlands Release 5 | NC_000010.10 - 96541616 | Apr 26, 2020 (154) |
172 | HapMap | NC_000010.11 - 94781859 | Apr 26, 2020 (154) |
173 | KOREAN population from KRGDB | NC_000010.10 - 96541616 | Apr 26, 2020 (154) |
174 | Korean Genome Project | NC_000010.11 - 94781859 | Apr 26, 2020 (154) |
175 | Korean Genome Project 4K | NC_000010.11 - 94781859 | Nov 01, 2024 (157) |
176 | Medical Genome Project healthy controls from Spanish population | NC_000010.10 - 96541616 | Apr 26, 2020 (154) |
177 | Northern Sweden | NC_000010.10 - 96541616 | Jul 13, 2019 (153) |
178 | The PAGE Study | NC_000010.11 - 94781859 | Jul 13, 2019 (153) |
179 | CNV burdens in cranial meningiomas | NC_000010.10 - 96541616 | Apr 26, 2021 (155) |
180 | MxGDAR/Encodat-PGx | NC_000010.10 - 96541616 | Apr 26, 2021 (155) |
181 | PharmGKB Aggregated | NC_000010.11 - 94781859 | Apr 26, 2020 (154) |
182 | Qatari | NC_000010.10 - 96541616 | Apr 26, 2020 (154) |
183 | SGDP_PRJ | NC_000010.10 - 96541616 | Apr 26, 2020 (154) |
184 | Siberian | NC_000010.10 - 96541616 | Apr 26, 2020 (154) |
185 | 38KJPN | NC_000010.11 - 94781859 | Nov 01, 2024 (157) |
186 | TopMed | NC_000010.11 - 94781859 | Apr 26, 2021 (155) |
187 | UK 10K study - Twins | NC_000010.10 - 96541616 | Oct 12, 2018 (152) |
188 | A Vietnamese Genetic Variation Database | NC_000010.10 - 96541616 | Jul 13, 2019 (153) |
189 | ALFA | NC_000010.11 - 94781859 | Nov 01, 2024 (157) |
190 | ClinVar | RCV000018393.33 | Nov 01, 2024 (157) |
191 | ClinVar | RCV000018394.37 | Nov 01, 2024 (157) |
192 | ClinVar | RCV000018395.35 | Nov 01, 2024 (157) |
193 | ClinVar | RCV000352637.13 | Nov 01, 2024 (157) |
194 | ClinVar | RCV000610614.9 | Nov 01, 2024 (157) |
195 | ClinVar | RCV000782440.10 | Nov 01, 2024 (157) |
196 | ClinVar | RCV000782448.11 | Nov 01, 2024 (157) |
197 | ClinVar | RCV000782449.10 | Nov 01, 2024 (157) |
198 | ClinVar | RCV000782450.9 | Nov 01, 2024 (157) |
199 | ClinVar | RCV000782451.10 | Nov 01, 2024 (157) |
200 | ClinVar | RCV000782452.10 | Nov 01, 2024 (157) |
201 | ClinVar | RCV000782453.10 | Nov 01, 2024 (157) |
202 | ClinVar | RCV000782488.10 | Nov 01, 2024 (157) |
203 | ClinVar | RCV000782513.10 | Nov 01, 2024 (157) |
204 | ClinVar | RCV000782514.11 | Nov 01, 2024 (157) |
205 | ClinVar | RCV000782515.11 | Nov 01, 2024 (157) |
206 | ClinVar | RCV000782516.10 | Nov 01, 2024 (157) |
207 | ClinVar | RCV000782517.10 | Nov 01, 2024 (157) |
208 | ClinVar | RCV000782518.10 | Nov 01, 2024 (157) |
209 | ClinVar | RCV000782519.10 | Nov 01, 2024 (157) |
210 | ClinVar | RCV000782634.10 | Nov 01, 2024 (157) |
211 | ClinVar | RCV000782635.10 | Nov 01, 2024 (157) |
212 | ClinVar | RCV000782636.10 | Nov 01, 2024 (157) |
213 | ClinVar | RCV000782637.10 | Nov 01, 2024 (157) |
214 | ClinVar | RCV000782638.10 | Nov 01, 2024 (157) |
215 | ClinVar | RCV000782639.10 | Nov 01, 2024 (157) |
216 | ClinVar | RCV000782640.10 | Nov 01, 2024 (157) |
217 | ClinVar | RCV000782690.10 | Nov 01, 2024 (157) |
218 | ClinVar | RCV000782691.10 | Nov 01, 2024 (157) |
219 | ClinVar | RCV000782692.10 | Nov 01, 2024 (157) |
220 | ClinVar | RCV000782693.10 | Nov 01, 2024 (157) |
221 | ClinVar | RCV000782694.10 | Nov 01, 2024 (157) |
222 | ClinVar | RCV000782695.10 | Nov 01, 2024 (157) |
223 | ClinVar | RCV000782696.10 | Nov 01, 2024 (157) |
224 | ClinVar | RCV000782697.9 | Nov 01, 2024 (157) |
225 | ClinVar | RCV000782698.10 | Nov 01, 2024 (157) |
226 | ClinVar | RCV000782699.10 | Nov 01, 2024 (157) |
227 | ClinVar | RCV000782700.10 | Nov 01, 2024 (157) |
228 | ClinVar | RCV000782880.10 | Nov 01, 2024 (157) |
229 | ClinVar | RCV000782881.10 | Nov 01, 2024 (157) |
230 | ClinVar | RCV000782882.10 | Nov 01, 2024 (157) |
231 | ClinVar | RCV000782883.10 | Nov 01, 2024 (157) |
232 | ClinVar | RCV000782884.10 | Nov 01, 2024 (157) |
233 | ClinVar | RCV000782885.10 | Nov 01, 2024 (157) |
234 | ClinVar | RCV000782886.10 | Nov 01, 2024 (157) |
235 | ClinVar | RCV000782887.10 | Nov 01, 2024 (157) |
236 | ClinVar | RCV000783140.10 | Nov 01, 2024 (157) |
237 | ClinVar | RCV000783141.10 | Nov 01, 2024 (157) |
238 | ClinVar | RCV000783142.10 | Nov 01, 2024 (157) |
239 | ClinVar | RCV000783143.10 | Nov 01, 2024 (157) |
240 | ClinVar | RCV000783144.10 | Nov 01, 2024 (157) |
241 | ClinVar | RCV000783145.10 | Nov 01, 2024 (157) |
242 | ClinVar | RCV000783171.10 | Nov 01, 2024 (157) |
243 | ClinVar | RCV000783172.10 | Nov 01, 2024 (157) |
244 | ClinVar | RCV000783173.10 | Nov 01, 2024 (157) |
245 | ClinVar | RCV000783174.10 | Nov 01, 2024 (157) |
246 | ClinVar | RCV000783175.10 | Nov 01, 2024 (157) |
247 | ClinVar | RCV000783269.10 | Nov 01, 2024 (157) |
248 | ClinVar | RCV000783270.10 | Nov 01, 2024 (157) |
249 | ClinVar | RCV000783415.10 | Nov 01, 2024 (157) |
250 | ClinVar | RCV000783416.10 | Nov 01, 2024 (157) |
251 | ClinVar | RCV000783417.10 | Nov 01, 2024 (157) |
252 | ClinVar | RCV000783418.10 | Nov 01, 2024 (157) |
253 | ClinVar | RCV000783500.10 | Nov 01, 2024 (157) |
254 | ClinVar | RCV000783514.10 | Nov 01, 2024 (157) |
255 | ClinVar | RCV000783515.10 | Nov 01, 2024 (157) |
256 | ClinVar | RCV000783575.10 | Nov 01, 2024 (157) |
257 | ClinVar | RCV000783576.10 | Nov 01, 2024 (157) |
258 | ClinVar | RCV000783577.10 | Nov 01, 2024 (157) |
259 | ClinVar | RCV000783578.10 | Nov 01, 2024 (157) |
260 | ClinVar | RCV000783613.10 | Nov 01, 2024 (157) |
261 | ClinVar | RCV000783614.10 | Nov 01, 2024 (157) |
262 | ClinVar | RCV000783615.10 | Nov 01, 2024 (157) |
263 | ClinVar | RCV000783616.9 | Nov 01, 2024 (157) |
264 | ClinVar | RCV000783617.10 | Nov 01, 2024 (157) |
265 | ClinVar | RCV000783618.10 | Nov 01, 2024 (157) |
266 | ClinVar | RCV000783619.10 | Nov 01, 2024 (157) |
267 | ClinVar | RCV000783620.10 | Nov 01, 2024 (157) |
268 | ClinVar | RCV000783648.10 | Nov 01, 2024 (157) |
269 | ClinVar | RCV000783666.11 | Nov 01, 2024 (157) |
270 | ClinVar | RCV000783672.10 | Nov 01, 2024 (157) |
271 | ClinVar | RCV000783673.10 | Nov 01, 2024 (157) |
272 | ClinVar | RCV000783712.10 | Nov 01, 2024 (157) |
273 | ClinVar | RCV000783739.10 | Nov 01, 2024 (157) |
274 | ClinVar | RCV000783740.10 | Nov 01, 2024 (157) |
275 | ClinVar | RCV000783741.10 | Nov 01, 2024 (157) |
276 | ClinVar | RCV000783742.10 | Nov 01, 2024 (157) |
277 | ClinVar | RCV000783743.10 | Nov 01, 2024 (157) |
278 | ClinVar | RCV000783864.10 | Nov 01, 2024 (157) |
279 | ClinVar | RCV000783865.10 | Nov 01, 2024 (157) |
280 | ClinVar | RCV000783866.10 | Nov 01, 2024 (157) |
281 | ClinVar | RCV000783867.10 | Nov 01, 2024 (157) |
282 | ClinVar | RCV000783868.10 | Nov 01, 2024 (157) |
283 | ClinVar | RCV000783922.11 | Nov 01, 2024 (157) |
284 | ClinVar | RCV000783923.11 | Nov 01, 2024 (157) |
285 | ClinVar | RCV000783924.10 | Nov 01, 2024 (157) |
286 | ClinVar | RCV000783925.9 | Nov 01, 2024 (157) |
287 | ClinVar | RCV000783926.10 | Nov 01, 2024 (157) |
288 | ClinVar | RCV000783927.10 | Nov 01, 2024 (157) |
289 | ClinVar | RCV000783928.10 | Nov 01, 2024 (157) |
290 | ClinVar | RCV000783929.10 | Nov 01, 2024 (157) |
291 | ClinVar | RCV000783930.10 | Nov 01, 2024 (157) |
292 | ClinVar | RCV000783931.10 | Nov 01, 2024 (157) |
293 | ClinVar | RCV000783932.10 | Nov 01, 2024 (157) |
294 | ClinVar | RCV000784107.10 | Nov 01, 2024 (157) |
295 | ClinVar | RCV000784108.10 | Nov 01, 2024 (157) |
296 | ClinVar | RCV000784109.10 | Nov 01, 2024 (157) |
297 | ClinVar | RCV000784110.10 | Nov 01, 2024 (157) |
298 | ClinVar | RCV000784111.10 | Nov 01, 2024 (157) |
299 | ClinVar | RCV000784112.10 | Nov 01, 2024 (157) |
300 | ClinVar | RCV000784113.10 | Nov 01, 2024 (157) |
301 | ClinVar | RCV000784114.10 | Nov 01, 2024 (157) |
302 | ClinVar | RCV000784115.10 | Nov 01, 2024 (157) |
303 | ClinVar | RCV000784116.10 | Nov 01, 2024 (157) |
304 | ClinVar | RCV000784117.10 | Nov 01, 2024 (157) |
305 | ClinVar | RCV000784118.10 | Nov 01, 2024 (157) |
306 | ClinVar | RCV000784302.10 | Nov 01, 2024 (157) |
307 | ClinVar | RCV000784312.10 | Nov 01, 2024 (157) |
308 | ClinVar | RCV000784313.10 | Nov 01, 2024 (157) |
309 | ClinVar | RCV000784314.10 | Nov 01, 2024 (157) |
310 | ClinVar | RCV000784315.11 | Nov 01, 2024 (157) |
311 | ClinVar | RCV000784316.10 | Nov 01, 2024 (157) |
312 | ClinVar | RCV000784317.10 | Nov 01, 2024 (157) |
313 | ClinVar | RCV000784403.11 | Nov 01, 2024 (157) |
314 | ClinVar | RCV000784404.10 | Nov 01, 2024 (157) |
315 | ClinVar | RCV000784405.10 | Nov 01, 2024 (157) |
316 | ClinVar | RCV000784406.10 | Nov 01, 2024 (157) |
317 | ClinVar | RCV000784407.10 | Nov 01, 2024 (157) |
318 | ClinVar | RCV000784408.9 | Nov 01, 2024 (157) |
319 | ClinVar | RCV000784498.10 | Nov 01, 2024 (157) |
320 | ClinVar | RCV000784499.10 | Nov 01, 2024 (157) |
321 | ClinVar | RCV000784500.10 | Nov 01, 2024 (157) |
322 | ClinVar | RCV000784501.10 | Nov 01, 2024 (157) |
323 | ClinVar | RCV000784502.10 | Nov 01, 2024 (157) |
324 | ClinVar | RCV000784503.10 | Nov 01, 2024 (157) |
325 | ClinVar | RCV000784504.10 | Nov 01, 2024 (157) |
326 | ClinVar | RCV000784505.10 | Nov 01, 2024 (157) |
327 | ClinVar | RCV000784648.10 | Nov 01, 2024 (157) |
328 | ClinVar | RCV000784649.10 | Nov 01, 2024 (157) |
329 | ClinVar | RCV000784650.10 | Nov 01, 2024 (157) |
330 | ClinVar | RCV000784651.10 | Nov 01, 2024 (157) |
331 | ClinVar | RCV000784652.10 | Nov 01, 2024 (157) |
332 | ClinVar | RCV000784653.10 | Nov 01, 2024 (157) |
333 | ClinVar | RCV000784749.10 | Nov 01, 2024 (157) |
334 | ClinVar | RCV000784750.10 | Nov 01, 2024 (157) |
335 | ClinVar | RCV000784751.10 | Nov 01, 2024 (157) |
336 | ClinVar | RCV000784752.11 | Nov 01, 2024 (157) |
337 | ClinVar | RCV000784797.10 | Nov 01, 2024 (157) |
338 | ClinVar | RCV000784798.10 | Nov 01, 2024 (157) |
339 | ClinVar | RCV000784838.11 | Nov 01, 2024 (157) |
340 | ClinVar | RCV000784839.10 | Nov 01, 2024 (157) |
341 | ClinVar | RCV000784840.10 | Nov 01, 2024 (157) |
342 | ClinVar | RCV002280383.1 | Nov 01, 2024 (157) |
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Associated ID | History Updated (Build) |
---|---|
rs17879456 | Mar 11, 2006 (126) |
rs60361278 | May 25, 2008 (130) |
rs116940633 | Aug 16, 2010 (132) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
ss109668150, ss254534604, ss280732378, ss290909232, ss480908553, ss491629939, ss1597477850, ss2710661490 | NC_000010.9:96531605:G:A | NC_000010.11:94781858:G:A | (self) |
51055232, 28345761, 20116501, 241578, 65940, 2282757, 998632, 12639404, 30133206, 381533, 10870478, 188502, 2115, 13212483, 26844636, 7106686, 28345761, 6294425, ss224884225, ss235292670, ss241975895, ss342304122, ss480927569, ss481884803, ss485249287, ss491001642, ss537221024, ss657184049, ss778532112, ss783070592, ss784028424, ss832328705, ss833988650, ss974475596, ss987804539, ss1067514945, ss1077215449, ss1338623797, ss1575296741, ss1584069479, ss1625196200, ss1668190233, ss1690011937, ss1711265773, ss1751988282, ss1931170553, ss1946289782, ss1959284952, ss1967199824, ss2026313671, ss2154590332, ss2627625777, ss2632748384, ss2698843075, ss2738420845, ss2748441509, ss2892128580, ss3006966091, ss3029638026, ss3349261285, ss3625584961, ss3626509917, ss3630771631, ss3632960313, ss3633657957, ss3634417821, ss3635350236, ss3636102025, ss3637100941, ss3640125162, ss3644542529, ss3646413622, ss3674378253, ss3737585613, ss3744074659, ss3744718792, ss3748468432, ss3772219148, ss3824540950, ss3825780773, ss3832276858, ss3839679578, ss3874827656, ss3922955812, ss3983983378, ss3984449114, ss3984639037, ss3986493465, ss6253826834, ss6307410302, ss6322395607, ss6326442677, ss6332060696, ss6343187327, ss6349787544, ss6403982928, ss6404454508, ss8198969276, ss8237481903, ss8237481905, ss8237481906, ss8237630501, ss8315494519, ss8510129403, ss8512473898, ss8623950097, ss8624011473, ss8624255707, ss8649886005, ss8799403698, ss8799821536, ss8800062047, ss8800161207, ss8824807546, ss8847378110, ss8847605634, ss8848304486, ss8941172579, ss8981728093, ss8981728094, ss8982151829 | NC_000010.10:96541615:G:A | NC_000010.11:94781858:G:A | (self) |
RCV000018393.33, RCV000018394.37, RCV000018395.35, RCV000352637.13, RCV000610614.9, RCV000782440.10, RCV000782448.11, RCV000782449.10, RCV000782450.9, RCV000782451.10, RCV000782452.10, RCV000782453.10, RCV000782488.10, RCV000782513.10, RCV000782514.11, RCV000782515.11, RCV000782516.10, RCV000782517.10, RCV000782518.10, RCV000782519.10, RCV000782634.10, RCV000782635.10, RCV000782636.10, RCV000782637.10, RCV000782638.10, RCV000782639.10, RCV000782640.10, RCV000782690.10, RCV000782691.10, RCV000782692.10, RCV000782693.10, RCV000782694.10, RCV000782695.10, RCV000782696.10, RCV000782697.9, RCV000782698.10, RCV000782699.10, RCV000782700.10, RCV000782880.10, RCV000782881.10, RCV000782882.10, RCV000782883.10, RCV000782884.10, RCV000782885.10, RCV000782886.10, RCV000782887.10, RCV000783140.10, RCV000783141.10, RCV000783142.10, RCV000783143.10, RCV000783144.10, RCV000783145.10, RCV000783171.10, RCV000783172.10, RCV000783173.10, RCV000783174.10, RCV000783175.10, RCV000783269.10, RCV000783270.10, RCV000783415.10, RCV000783416.10, RCV000783417.10, RCV000783418.10, RCV000783500.10, RCV000783514.10, RCV000783515.10, RCV000783575.10, RCV000783576.10, RCV000783577.10, RCV000783578.10, RCV000783613.10, RCV000783614.10, RCV000783615.10, RCV000783616.9, RCV000783617.10, RCV000783618.10, RCV000783619.10, RCV000783620.10, RCV000783648.10, RCV000783666.11, RCV000783672.10, RCV000783673.10, RCV000783712.10, RCV000783739.10, RCV000783740.10, RCV000783741.10, RCV000783742.10, RCV000783743.10, RCV000783864.10, RCV000783865.10, RCV000783866.10, RCV000783867.10, RCV000783868.10, RCV000783922.11, RCV000783923.11, RCV000783924.10, RCV000783925.9, RCV000783926.10, RCV000783927.10, RCV000783928.10, RCV000783929.10, RCV000783930.10, RCV000783931.10, RCV000783932.10, RCV000784107.10, RCV000784108.10, RCV000784109.10, RCV000784110.10, RCV000784111.10, RCV000784112.10, RCV000784113.10, RCV000784114.10, RCV000784115.10, RCV000784116.10, RCV000784117.10, RCV000784118.10, RCV000784302.10, RCV000784312.10, RCV000784313.10, RCV000784314.10, RCV000784315.11, RCV000784316.10, RCV000784317.10, RCV000784403.11, RCV000784404.10, RCV000784405.10, RCV000784406.10, RCV000784407.10, RCV000784408.9, RCV000784498.10, RCV000784499.10, RCV000784500.10, RCV000784501.10, RCV000784502.10, RCV000784503.10, RCV000784504.10, RCV000784505.10, RCV000784648.10, RCV000784649.10, RCV000784650.10, RCV000784651.10, RCV000784652.10, RCV000784653.10, RCV000784749.10, RCV000784750.10, RCV000784751.10, RCV000784752.11, RCV000784797.10, RCV000784798.10, RCV000784838.11, RCV000784839.10, RCV000784840.10, 67091039, 35745804, 387015388, 468188, 24836466, 32140983, 797194, 1139, 131577935, 78174471, 9569269763, ss1505810974, ss2177148642, ss3026946939, ss3649441579, ss3690461995, ss3771575725, ss3813834603, ss3845153244, ss3968458465, ss4862628816, ss6114202115, ss6322063341, ss6349997714, ss6382289085, ss6404050381, ss6440423965, ss6859879643, ss8236886080, ss8237655806, ss8285088098, ss8314429328, ss8480548060, ss8579565104, ss8745187076, ss8811792439, ss8849697153, ss8880086142, ss8981325922, ss8982040320, ss8982064789 | NC_000010.11:94781858:G:A | NC_000010.11:94781858:G:A | (self) |
ss20712232 | NT_030059.11:15290141:G:A | NC_000010.11:94781858:G:A | (self) |
ss6273387, ss24092249, ss28531447, ss32475261, ss38568858, ss65746807, ss66862485, ss69370430, ss71644820, ss76860176, ss79314148, ss84155548, ss97576553, ss137888266, ss159721122, ss160667511, ss244267390 | NT_030059.13:47346079:G:A | NC_000010.11:94781858:G:A | (self) |
ss8237481904, ss8512473898, ss8624255707 | NC_000010.10:96541615:G:C | NC_000010.11:94781858:G:C | (self) |
ss38568858 | NT_030059.13:47346079:G:C | NC_000010.11:94781858:G:C | (self) |
RCV002280383.1, 9569269763 | NC_000010.11:94781858:G:T | NC_000010.11:94781858:G:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
8195181 | The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. | de Morais SM et al. | 1994 | The Journal of biological chemistry |
9093256 | High frequencies of CYP2C19 mutations and poor metabolism of proguanil in Vanuatu. | Kaneko A et al. | 1997 | Lancet (London, England) |
11763000 | The effect of CYP2C19 and CYP2D6 genotypes on the metabolism of clomipramine in Japanese psychiatric patients. | Yokono A et al. | 2001 | Journal of clinical psychopharmacology |
12012142 | The role of CYP2C19 in amitriptyline N-demethylation in Chinese subjects. | Jiang ZP et al. | 2002 | European journal of clinical pharmacology |
12172336 | The impact of CYP2C19 and CYP2D6 genotypes on metabolism of amitriptyline in Japanese psychiatric patients. | Shimoda K et al. | 2002 | Journal of clinical psychopharmacology |
15168101 | Impact of polymorphisms of cytochrome-P450 isoenzymes 2C9, 2C19 and 2D6 on plasma concentrations and clinical effects of antidepressants in a naturalistic clinical setting. | Grasmäder K et al. | 2004 | European journal of clinical pharmacology |
15205367 | Allele-specific change of concentration and functional gene dose for the prediction of steady-state serum concentrations of amitriptyline and nortriptyline in CYP2C19 and CYP2D6 extensive and intermediate metabolizers. | Steimer W et al. | 2004 | Clinical chemistry |
15590749 | Amitriptyline or not, that is the question: pharmacogenetic testing of CYP2D6 and CYP2C19 identifies patients with low or high risk for side effects in amitriptyline therapy. | Steimer W et al. | 2005 | Clinical chemistry |
16024198 | CYP2D6 and CYP2C19 genotypes and amitriptyline metabolite ratios in a series of medicolegal autopsies. | Koski A et al. | 2006 | Forensic science international |
16044105 | Metabolic ratios of psychotropics as indication of cytochrome P450 2D6/2C19 genotype. | van der Weide J et al. | 2005 | Therapeutic drug monitoring |
16772608 | Cytochrome P450 2C19 loss-of-function polymorphism is a major determinant of clopidogrel responsiveness in healthy subjects. | Hulot JS et al. | 2006 | Blood |
17048007 | Association of warfarin dose with genes involved in its action and metabolism. | Wadelius M et al. | 2007 | Human genetics |
17625515 | Impact of the ultrarapid CYP2C19*17 allele on serum concentration of escitalopram in psychiatric patients. | Rudberg I et al. | 2008 | Clinical pharmacology and therapeutics |
17697139 | Influence of CYP2C19 and CYP3A4 gene polymorphisms on clopidogrel responsiveness in healthy subjects. | Fontana P et al. | 2007 | Journal of thrombosis and haemostasis |
17900275 | Common polymorphisms of CYP2C19 and CYP2C9 affect the pharmacokinetic and pharmacodynamic response to clopidogrel but not prasugrel. | Brandt JT et al. | 2007 | Journal of thrombosis and haemostasis |
18004210 | Cytochrome P450 2C19 loss-of-function polymorphism, but not CYP3A4 IVS10 + 12G/A and P2Y12 T744C polymorphisms, is associated with response variability to dual antiplatelet treatment in high-risk vascular patients. | Giusti B et al. | 2007 | Pharmacogenetics and genomics |
18323861 | The effect of CYP2C19 polymorphism on the pharmacokinetics and pharmacodynamics of clopidogrel: a possible mechanism for clopidogrel resistance. | Kim KA et al. | 2008 | Clinical pharmacology and therapeutics |
18346178 | Inhibition of ADP-induced platelet aggregation by clopidogrel is related to CYP2C19 genetic polymorphisms. | Chen BL et al. | 2008 | Clinical and experimental pharmacology & physiology |
18394438 | Effect of cytochrome p450 polymorphisms on platelet reactivity after treatment with clopidogrel in acute coronary syndrome. | Frere C et al. | 2008 | The American journal of cardiology |
18482659 | Cytochrome P450 2C19 681G>A polymorphism and high on-clopidogrel platelet reactivity associated with adverse 1-year clinical outcome of elective percutaneous coronary intervention with drug-eluting or bare-metal stents. | Trenk D et al. | 2008 | Journal of the American College of Cardiology |
18521743 | CYP2C19*17 is associated with decreased breast cancer risk. | Justenhoven C et al. | 2009 | Breast cancer research and treatment |
18532997 | The common gene variants of CYP2C19 affect pharmacokinetics and pharmacodynamics in an active metabolite of clopidogrel in healthy subjects. | Umemura K et al. | 2008 | Journal of thrombosis and haemostasis |
18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
18577829 | Coexisting polymorphisms of P2Y12 and CYP2C19 genes as a risk factor for persistent platelet activation with clopidogrel. | Malek LA et al. | 2008 | Circulation journal |
18781853 | CYP2C19 and nongenetic factors predict poor responsiveness to clopidogrel loading dose after coronary stent implantation. | Geisler T et al. | 2008 | Pharmacogenomics |
19106083 | Genetic determinants of response to clopidogrel and cardiovascular events. | Simon T et al. | 2009 | The New England journal of medicine |
19106084 | Cytochrome p-450 polymorphisms and response to clopidogrel. | Mega JL et al. | 2009 | The New England journal of medicine |
19108880 | Cytochrome P450 2C19 polymorphism in young patients treated with clopidogrel after myocardial infarction: a cohort study. | Collet JP et al. | 2009 | Lancet (London, England) |
19136640 | Rapid identification of the hepatic cytochrome P450 2C19 activity using a novel and noninvasive [13C]pantoprazole breath test. | Desta Z et al. | 2009 | The Journal of pharmacology and experimental therapeutics |
19164093 | Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects. | Matimba A et al. | 2009 | Human genomics |
19193675 | Cytochrome P450 2C19 loss-of-function polymorphism and stent thrombosis following percutaneous coronary intervention. | Sibbing D et al. | 2009 | European heart journal |
19268736 | Relation of cytochrome P450 2C19 loss-of-function polymorphism to occurrence of drug-eluting coronary stent thrombosis. | Giusti B et al. | 2009 | The American journal of cardiology |
19444287 | Frequencies of genotypes and alleles of the functional SNPs in CYP2C19 and CYP2E1 in mainland Chinese Kazakh, Uygur and Han populations. | Wang SM et al. | 2009 | Journal of human genetics |
19463375 | The pharmacogenetics and pharmacodynamics of clopidogrel response: an analysis from the PRINC (Plavix Response in Coronary Intervention) trial. | Gladding P et al. | 2008 | JACC. Cardiovascular interventions |
19531897 | Impact of CYP2C19 polymorphisms on the antiplatelet effect of clopidogrel in an actual clinical setting in Japan. | Jinnai T et al. | 2009 | Circulation journal |
19576320 | Relation of genetic polymorphisms in the cytochrome P450 gene with clopidogrel resistance after drug-eluting stent implantation in Koreans. | Lee JM et al. | 2009 | The American journal of cardiology |
19617466 | CYP2C9, CYP2C19, and ABCB1 genotype and hospitalization for phenytoin toxicity. | Hennessy S et al. | 2009 | Journal of clinical pharmacology |
19624462 | CYP2C19*2 polymorphism is not the sole determinant of the response to clopidogrel: implications for its monitoring. | Aleil B et al. | 2009 | Journal of thrombosis and haemostasis |
19706858 | Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. | Shuldiner AR et al. | 2009 | JAMA |
19841156 | Effect of age, weight, and CYP2C19 genotype on escitalopram exposure. | Jin Y et al. | 2010 | Journal of clinical pharmacology |
19890215 | CYP2C19 genetic variants affect nelfinavir pharmacokinetics and virologic response in HIV-1-infected children receiving highly active antiretroviral therapy. | Saitoh A et al. | 2010 | Journal of acquired immune deficiency syndromes (1999) |
19926050 | Pharmacogenetic testing for clopidogrel using the rapid INFINITI analyzer: a dose-escalation study. | Gladding P et al. | 2009 | JACC. Cardiovascular interventions |
19934793 | Besides CYP2C19*2, the variant allele CYP2C9*3 is associated with higher on-clopidogrel platelet reactivity in patients on dual antiplatelet therapy undergoing elective coronary stent implantation. | Harmsze A et al. | 2010 | Pharmacogenetics and genomics |
20351750 | Cytochrome P450 2C19*2 polymorphism and cardiovascular recurrences in patients taking clopidogrel: a meta-analysis. | Sofi F et al. | 2011 | The pharmacogenomics journal |
20435227 | Clinical assessment incorporating a personal genome. | Ashley EA et al. | 2010 | Lancet (London, England) |
20440227 | Clopidogrel pathway. | Sangkuhl K et al. | 2010 | Pharmacogenetics and genomics |
20492469 | Isolated and interactive impact of common CYP2C19 genetic variants on the antiplatelet effect of chronic clopidogrel therapy. | Sibbing D et al. | 2010 | Journal of thrombosis and haemostasis |
20510210 | Impact of cytochrome P450 2C19 loss-of-function polymorphism and of major demographic characteristics on residual platelet function after loading and maintenance treatment with clopidogrel in patients undergoing elective coronary stent placement. | Hochholzer W et al. | 2010 | Journal of the American College of Cardiology |
20531370 | Association between CYP2C19*17 and metabolism of amitriptyline, citalopram and clomipramine in Dutch hospitalized patients. | de Vos A et al. | 2011 | The pharmacogenomics journal |
20620727 | Cardiovascular risk in clopidogrel-treated patients according to cytochrome P450 2C19*2 loss-of-function allele or proton pump inhibitor coadministration: a systematic meta-analysis. | Hulot JS et al. | 2010 | Journal of the American College of Cardiology |
20650435 | Carriage of cytochrome 2C19 polymorphism is associated with risk of high post-treatment platelet reactivity on high maintenance-dose clopidogrel of 150 mg/day: results of the ACCEL-DOUBLE (Accelerated Platelet Inhibition by a Double Dose of Clopidogrel According to Gene Polymorphism) study. | Jeong YH et al. | 2010 | JACC. Cardiovascular interventions |
20708365 | Clopidogrel loading dose adjustment according to platelet reactivity monitoring in patients carrying the 2C19*2 loss of function polymorphism. | Bonello L et al. | 2010 | Journal of the American College of Cardiology |
20724801 | Pre-procedural platelet reactivity after clopidogrel loading in korean patients undergoing scheduled percutaneous coronary intervention. | Kang MK et al. | 2010 | Journal of atherosclerosis and thrombosis |
20801494 | Genetic variants in ABCB1 and CYP2C19 and cardiovascular outcomes after treatment with clopidogrel and prasugrel in the TRITON-TIMI 38 trial: a pharmacogenetic analysis. | Mega JL et al. | 2010 | Lancet (London, England) |
20801498 | Effect of CYP2C19 and ABCB1 single nucleotide polymorphisms on outcomes of treatment with ticagrelor versus clopidogrel for acute coronary syndromes: a genetic substudy of the PLATO trial. | Wallentin L et al. | 2010 | Lancet (London, England) |
20833683 | CYP2C19*2 and CYP2C9*3 alleles are associated with stent thrombosis: a case-control study. | Harmsze AM et al. | 2010 | European heart journal |
20845077 | Cytochrome P450 2C19 polymorphism is associated with poor clinical outcomes in coronary artery disease patients treated with clopidogrel. | Jin B et al. | 2011 | Molecular biology reports |
20847277 | Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification. | Baak-Pablo R et al. | 2010 | The Journal of molecular diagnostics |
20921971 | Mapping genes that predict treatment outcome in admixed populations. | Baye TM et al. | 2010 | The pharmacogenomics journal |
20924183 | Cytochrome P450 2C19 polymorphism, suboptimal reperfusion and all-cause mortality in patients with acute myocardial infarction. | Małek LA et al. | 2010 | Cardiology |
20936101 | Pharmacogenetics of Anti-Diabetes Drugs. | Distefano JK et al. | 2010 | Pharmaceuticals (Basel, Switzerland) |
20978260 | Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominantly for PCI: a meta-analysis. | Mega JL et al. | 2010 | JAMA |
20979470 | Effects of CYP2C19 genotype on outcomes of clopidogrel treatment. | Paré G et al. | 2010 | The New England journal of medicine |
21071160 | Analysis of 50 SNPs in CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by MALDI-TOF mass spectrometry in Chinese Han population. | Shi Y et al. | 2011 | Forensic science international |
21099121 | Impact of cytochrome P450 2C19*2 polymorphism on intra-stent thrombus after drug-eluting stent implantation in Japanese patients receiving clopidogrel. | Sawada T et al. | 2011 | Circulation journal |
21102498 | Cytochrome P450 genetic polymorphisms influence the serum concentration of calcineurin inhibitors in allogeneic hematopoietic SCT recipients. | Onizuka M et al. | 2011 | Bone marrow transplantation |
21163112 | Impact of CYP2C19 polymorphism and smoking on response to clopidogrel in patients with stable coronary artery disease. | Liu XL et al. | 2010 | Chinese medical journal |
21168310 | Impact of CYP2C19 polymorphism on residual platelet reactivity in patients with coronary heart disease during antiplatelet therapy. | Yamamoto K et al. | 2011 | Journal of cardiology |
21178986 | Differential impacts of CYP2C19 gene polymorphisms on the antiplatelet effects of clopidogrel and ticlopidine. | Maeda A et al. | 2011 | Clinical pharmacology and therapeutics |
21192344 | CYP2C19 variation and citalopram response. | Mrazek DA et al. | 2011 | Pharmacogenetics and genomics |
21247447 | CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population. | Santos PC et al. | 2011 | BMC medical genetics |
21289622 | Pharmacogenomics of the RNA world: structural RNA polymorphisms in drug therapy. | Sadee W et al. | 2011 | Clinical pharmacology and therapeutics |
21358751 | Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness. | Scott SA et al. | 2012 | The pharmacogenomics journal |
21392617 | The relation between CYP2C19 genotype and phenotype in stented patients on maintenance dual antiplatelet therapy. | Gurbel PA et al. | 2011 | American heart journal |
21426546 | The influence of CYP 2C19*2 polymorphism on platelet function testing during single antiplatelet treatment with clopidogrel. | Pettersen AA et al. | 2011 | Thrombosis journal |
21474982 | Clinical, pharmacokinetic, and pharmacogenetic determinants of clopidogrel resistance in Korean patients with acute coronary syndrome. | Park KJ et al. | 2011 | The Korean journal of laboratory medicine |
21480951 | Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients. | Lim JS et al. | 2011 | British journal of clinical pharmacology |
21497341 | High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19. | Painter JN et al. | 2011 | Fertility and sterility |
21527445 | No association of paraoxonase-1 Q192R genotypes with platelet response to clopidogrel and risk of stent thrombosis after coronary stenting. | Sibbing D et al. | 2011 | European heart journal |
21546862 | PharmGKB summary: citalopram pharmacokinetics pathway. | Sangkuhl K et al. | 2011 | Pharmacogenetics and genomics |
21628721 | Variability in on-treatment platelet reactivity explained by CYP2C19*2 genotype is modest in clopidogrel pretreated patients undergoing coronary stenting. | Bouman HJ et al. | 2011 | Heart (British Cardiac Society) |
21689142 | Pharmacokinetics and pharmacodynamics following maintenance doses of prasugrel and clopidogrel in Chinese carriers of CYP2C19 variants. | Kelly RP et al. | 2012 | British journal of clinical pharmacology |
21700758 | Association of cytochrome P450 2C19*2 polymorphism with clopidogrel response variability and cardiovascular events in Koreans treated with drug-eluting stents. | Oh IY et al. | 2012 | Heart (British Cardiac Society) |
21708280 | Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. | Srivastava K et al. | 2011 | Mutation research |
21712189 | Analysis of pharmacogenetic traits in two distinct South African populations. | Ikediobi O et al. | 2011 | Human genomics |
21716271 | Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy. | Scott SA et al. | 2011 | Clinical pharmacology and therapeutics |
21786436 | Cytochrome P450 2C19 polymorphism is associated with reduced clopidogrel response in cerebrovascular disease. | Lee JB et al. | 2011 | Yonsei medical journal |
21806387 | Impact of genetic variants on post-clopidogrel platelet reactivity in patients after elective percutaneous coronary intervention. | Rideg O et al. | 2011 | Pharmacogenomics |
21816733 | Impact of CYP2C19 variant genotypes on clinical efficacy of antiplatelet treatment with clopidogrel: systematic review and meta-analysis. | Bauer T et al. | 2011 | BMJ (Clinical research ed.) |
21831410 | CYP2C19*2 and other genetic variants affecting platelet response to clopidogrel in patients undergoing percutaneous coronary intervention. | Kassimis G et al. | 2012 | Thrombosis research |
21860339 | Integration of absorption, distribution, metabolism, and elimination genotyping data into a population pharmacokinetic analysis of nevirapine. | Lehr T et al. | 2011 | Pharmacogenetics and genomics |
21881565 | Paraoxonase 1 (PON1) gene variants are not associated with clopidogrel response. | Lewis JP et al. | 2011 | Clinical pharmacology and therapeutics |
21918509 | Pharmacogenomics: application to the management of cardiovascular disease. | Johnson JA et al. | 2011 | Clinical pharmacology and therapeutics |
21918510 | Effect of paraoxonase-1 polymorphism on clinical outcomes in patients treated with clopidogrel after an acute myocardial infarction. | Simon T et al. | 2011 | Clinical pharmacology and therapeutics |
21921273 | Cardiovascular pharmacogenomics. | Roden DM et al. | 2011 | Circulation research |
21972404 | CYP2C19 but not PON1 genetic variants influence clopidogrel pharmacokinetics, pharmacodynamics, and clinical efficacy in post-myocardial infarction patients. | Hulot JS et al. | 2011 | Circulation. Cardiovascular interventions |
21998633 | Functional evaluation of genetic and environmental regulators of p450 mRNA levels. | Wang D et al. | 2011 | PloS one |
22007612 | Interaction analysis between genetic polymorphisms and pharmacodynamic effect in patients treated with adjunctive cilostazol to dual antiplatelet therapy: results of the ACCEL-TRIPLE (Accelerated Platelet Inhibition by Triple Antiplatelet Therapy According to Gene Polymorphism) study. | Kim IS et al. | 2012 | British journal of clinical pharmacology |
22028352 | Clinical, angiographic, and genetic factors associated with early coronary stent thrombosis. | Cayla G et al. | 2011 | JAMA |
22088980 | Dosing clopidogrel based on CYP2C19 genotype and the effect on platelet reactivity in patients with stable cardiovascular disease. | Mega JL et al. | 2011 | JAMA |
22190063 | Predicting clopidogrel response using DNA samples linked to an electronic health record. | Delaney JT et al. | 2012 | Clinical pharmacology and therapeutics |
22228204 | The influence of CYP2C19*2 and *17 on on-treatment platelet reactivity and bleeding events in patients undergoing elective coronary stenting. | Harmsze AM et al. | 2012 | Pharmacogenetics and genomics |
22265638 | The impact of genetic polymorphisms of P2Y12, CYP3A5 and CYP2C19 on clopidogrel response variability in Iranian patients. | Namazi S et al. | 2012 | Biochemical pharmacology |
22285300 | Factors associated with the failure of clopidogrel dose-adjustment according to platelet reactivity monitoring to optimize P2Y12-ADP receptor blockade. | Bonello L et al. | 2012 | Thrombosis research |
22427735 | Influence of paraoxonase-1 Q192R and cytochrome P450 2C19 polymorphisms on clopidogrel response. | Kreutz RP et al. | 2012 | Clinical pharmacology |
22462746 | CYP2C19 and PON1 polymorphisms regulating clopidogrel bioactivation in Chinese, Malay and Indian subjects. | Chan MY et al. | 2012 | Pharmacogenomics |
22479249 | Whole genome amplification of DNA for genotyping pharmacogenetics candidate genes. | Philips S et al. | 2012 | Frontiers in pharmacology |
22491019 | Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes. | Martis S et al. | 2013 | The pharmacogenomics journal |
22569204 | PharmGKB summary: phenytoin pathway. | Thorn CF et al. | 2012 | Pharmacogenetics and genomics |
22624833 | Influence of genetic polymorphisms on the effect of high- and standard-dose clopidogrel after percutaneous coronary intervention: the GIFT (Genotype Information and Functional Testing) study. | Price MJ et al. | 2012 | Journal of the American College of Cardiology |
22702493 | Association of cytochrome P450 genetic polymorphisms with neoadjuvant chemotherapy efficacy in breast cancer patients. | Seredina TA et al. | 2012 | BMC medical genetics |
22723959 | Paraoxonase-1 is not a major determinant of stent thrombosis in a Taiwanese population. | Chen DY et al. | 2012 | PloS one |
22784880 | Polymorphisms in cytochrome P450 2C19 enzyme and cessation of leflunomide in patients with rheumatoid arthritis. | Wiese MD et al. | 2012 | Arthritis research & therapy |
22940005 | Value of platelet pharmacogenetics in common clinical practice of patients with ST-segment elevation myocardial infarction. | Verschuren JJ et al. | 2013 | International journal of cardiology |
22990067 | Effects of CYP2C19 variant alleles on postclopidogrel platelet reactivity and clinical outcomes in an actual clinical setting in China. | Wu H et al. | 2012 | Pharmacogenetics and genomics |
22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
23089684 | Similarity in recombination rate and linkage disequilibrium at CYP2C and CYP2D cytochrome P450 gene regions among Europeans indicates signs of selection and no advantage of using tagSNPs in population isolates. | Pimenoff VN et al. | 2012 | Pharmacogenetics and genomics |
23104099 | Multiple genetic variants predict steady-state nevirapine clearance in HIV-infected Cambodians. | Bertrand J et al. | 2012 | Pharmacogenetics and genomics |
23111422 | Pharmacogenetics-based population pharmacokinetic analysis of etravirine in HIV-1 infected individuals. | Lubomirov R et al. | 2013 | Pharmacogenetics and genomics |
23133420 | Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin. | Suarez-Kurtz G et al. | 2012 | Frontiers in pharmacology |
23175667 | Increased hospital stay and allograft dysfunction in renal transplant recipients with Cyp2c19 AA variant in SNP rs4244285. | Bosó V et al. | 2013 | Drug metabolism and disposition |
23300409 | Chapter 7: Pharmacogenomics. | Karczewski KJ et al. | 2012 | PLoS computational biology |
23364775 | Cardiovascular risk among patients on clopidogrel anti-platelet therapy after placement of drug-eluting stents is modified by genetic variants in both the CYP2C19 and ABCB1 genes. | Carlquist JF et al. | 2013 | Thrombosis and haemostasis |
23645039 | High prevalence of CYP2C19*2 allele in Roma samples: study on Roma and Hungarian population samples with review of the literature. | Sipeky C et al. | 2013 | Molecular biology reports |
23661171 | CYP2C19 genotypes and their impact on clopidogrel responsiveness in percutaneous coronary intervention. | Mejin M et al. | 2013 | International journal of clinical pharmacy |
23687222 | Clinical and genetic determinants of plasma nevirapine exposure following an intrapartum dose to prevent mother-to-child HIV transmission. | Vardhanabhuti S et al. | 2013 | The Journal of infectious diseases |
23697979 | Pharmacogenomics of anti-platelet therapy: how much evidence is enough for clinical implementation? | Perry CG et al. | 2013 | Journal of human genetics |
23698643 | Clinical Pharmacogenetics Implementation Consortium guidelines for CYP2C19 genotype and clopidogrel therapy: 2013 update. | Scott SA et al. | 2013 | Clinical pharmacology and therapeutics |
23766564 | Pharmacogenetics of chronic pain and its treatment. | Světlík S et al. | 2013 | Mediators of inflammation |
23797323 | Pharmacogenomics of anti-platelet and anti-coagulation therapy. | Fisch AS et al. | 2013 | Current cardiology reports |
23810503 | Comparison of high-resolution melting analysis, TaqMan Allelic discrimination assay, and sanger sequencing for Clopidogrel efficacy genotyping in routine molecular diagnostics. | Zhang L et al. | 2013 | The Journal of molecular diagnostics |
23895809 | Racial disparity with on-treatment platelet reactivity in patients undergoing percutaneous coronary intervention. | Pendyala LK et al. | 2013 | American heart journal |
24016178 | Functional genetic polymorphisms in CYP2C19 gene in relation to cardiac side effects and treatment dose in a methadone maintenance cohort. | Wang SC et al. | 2013 | Omics |
24353446 | Cytochrome P450 3A4*22, PPAR-α, and ARNT polymorphisms and clopidogrel response. | Kreutz RP et al. | 2013 | Clinical pharmacology |
24357089 | Genetic polymorphisms of metabolic enzymes and the pharmacokinetics of indapamide in Taiwanese subjects. | Wang TH et al. | 2014 | The AAPS journal |
24519754 | CYP2C19 genotype-phenotype discordance in patients with multiple myeloma leads to an acquired loss of drug-metabolising activity. | Burns KE et al. | 2014 | Cancer chemotherapy and pharmacology |
24710841 | Effectiveness of clopidogrel dose escalation to normalize active metabolite exposure and antiplatelet effects in CYP2C19 poor metabolizers. | Horenstein RB et al. | 2014 | Journal of clinical pharmacology |
24762860 | Cytochrome p450 gene variants, race, and mortality among clopidogrel-treated patients after acute myocardial infarction. | Cresci S et al. | 2014 | Circulation. Cardiovascular genetics |
24796765 | Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis. | Painter JN et al. | 2014 | Fertility and sterility |
24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
25051347 | Interplay between genetic and clinical variables affecting platelet reactivity and cardiac adverse events in patients undergoing percutaneous coronary intervention. | Siller-Matula JM et al. | 2014 | PloS one |
25126975 | A pharmacogenetics-based warfarin maintenance dosing algorithm from Northern Chinese patients. | Chen J et al. | 2014 | PloS one |
25266489 | Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China. | Zhang J et al. | 2014 | BMC genetics |
25419701 | Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations. | Bonifaz-Peña V et al. | 2014 | PloS one |
25714468 | A systematic approach to the reporting of medically relevant findings from whole genome sequencing. | McLaughlin HM et al. | 2014 | BMC medical genetics |
25730082 | Diversity of platelet function and genetic polymorphism in clopidogrel-treated Chinese patients. | Sun B et al. | 2015 | Genetics and molecular research |
25860557 | Correlation Between SNPs in Candidate Genes and VerifyNow-Detected Platelet Responsiveness to Aspirin and Clopidogrel Treatment. | Cui H et al. | 2015 | Cardiovascular drugs and therapy |
25897256 | Personalized antiplatelet and anticoagulation therapy: applications and significance of pharmacogenomics. | Beitelshees AL et al. | 2015 | Pharmacogenomics and personalized medicine |
26021325 | The CYP2C19 Intron 2 Branch Point SNP is the Ancestral Polymorphism Contributing to the Poor Metabolizer Phenotype in Livers with CYP2C19*35 and CYP2C19*2 Alleles. | Chaudhry AS et al. | 2015 | Drug metabolism and disposition |
26091847 | Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China. | Wang L et al. | 2015 | BMC genetics |
26263974 | Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine. | Simeon V et al. | 2015 | International journal of molecular sciences |
26323597 | Interindividual variability of CYP2C19-catalyzed drug metabolism due to differences in gene diplotypes and cytochrome P450 oxidoreductase content. | Shirasaka Y et al. | 2016 | The pharmacogenomics journal |
26444257 | Genetic diversity of variants involved in drug response and metabolism in Sri Lankan populations: implications for clinical implementation of pharmacogenomics. | Chan SL et al. | 2016 | Pharmacogenetics and genomics |
26757134 | Genetic and Nongenetic Factors Affecting Clopidogrel Response in the Egyptian Population. | Khalil BM et al. | 2016 | Clinical and translational science |
26773420 | Cyclophosphamide pharmacokinetics and pharmacogenetics in children with B-cell non-Hodgkin's lymphoma. | Veal GJ et al. | 2016 | European journal of cancer (Oxford, England |
26781306 | Genotype‑phenotype analysis of CYP2C19 in the Tibetan population and its potential clinical implications in drug therapy. | Jin T et al. | 2016 | Molecular medicine reports |
26785747 | Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. | Iskakova AN et al. | 2016 | BMC genetics |
26801900 | Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations. | Cocca M et al. | 2016 | Journal of translational medicine |
26858644 | Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. | Chua EW et al. | 2016 | Frontiers in pharmacology |
26870959 | Association of PON1, P2Y12 and COX1 with Recurrent Ischemic Events in Patients with Extracranial or Intracranial Stenting. | Li XQ et al. | 2016 | PloS one |
26961113 | Association of Cytochrome P450 Genetic Variants with Clopidogrel Resistance and Outcomes in Acute Ischemic Stroke. | Yi X et al. | 2016 | Journal of atherosclerosis and thrombosis |
27002825 | Glutathione S Transferases Polymorphisms Are Independent Prognostic Factors in Lupus Nephritis Treated with Cyclophosphamide. | Audemard-Verger A et al. | 2016 | PloS one |
27010727 | Genome-Wide Pharmacogenomic Study on Methadone Maintenance Treatment Identifies SNP rs17180299 and Multiple Haplotypes on CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of Methadone R- and S-enantiomers in Heroin-Dependent Patients. | Yang HC et al. | 2016 | PLoS genetics |
27110117 | Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder. | Medhasi S et al. | 2016 | Neuropsychiatric disease and treatment |
27133299 | Associations of CYP3A4, NR1I2, CYP2C19 and P2RY12 polymorphisms with clopidogrel resistance in Chinese patients with ischemic stroke. | Liu R et al. | 2016 | Acta pharmacologica Sinica |
27171561 | Liver Function Test Abnormalities in Depressed Patients Treated with Antidepressants: A Real-World Systematic Observational Study in Psychiatric Settings. | Voican CS et al. | 2016 | PloS one |
27233747 | Interaction of CYP2C19, P2Y12, and GPIIIa Variants Associates With Efficacy of Clopidogrel and Adverse Events on Patients With Ischemic Stroke. | Yi X et al. | 2017 | Clinical and applied thrombosis/hemostasis |
27233804 | Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. | Jin T et al. | 2016 | BMC genetics |
27249515 | Evidence for extensive pleiotropy among pharmacogenes. | Oetjens MT et al. | 2016 | Pharmacogenomics |
27296832 | ABCB1 polymorphism is associated with atorvastatin-induced liver injury in Japanese population. | Fukunaga K et al. | 2016 | BMC genetics |
27368038 | CYP2C19 loss-of-function alleles are not associated with clinical outcome of clopidogrel therapy in patients treated with newer-generation drug-eluting stents. | Choi IJ et al. | 2016 | Medicine |
27529241 | The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key? | Daud AN et al. | 2016 | International journal of molecular sciences |
27728892 | CYP2C19 genotyping combined with on-clopidogrel platelet reactivity in predicting major adverse cardiovascular events in Chinese patients with percutaneous coronary intervention. | Tang XF et al. | 2016 | Thrombosis research |
27915083 | Pharmacodynamic and cytogenetic evaluation in CYP2C19*2 and CYP2C19*3 allelomorphism in South Indian population with clopidogrel therapy. | Tantray JA et al. | 2017 | International journal of cardiology |
27981573 | Genomewide Association Study Identifies Novel Genetic Loci That Modify Antiplatelet Effects and Pharmacokinetics of Clopidogrel. | Zhong WP et al. | 2017 | Clinical pharmacology and therapeutics |
28066799 | The study protocol for a non-randomized controlled clinical trial using a genotype-guided strategy in a dataset of patients who undergone percutaneous coronary intervention with stent. | Dávila-Fajardo CL et al. | 2017 | Data in brief |
28095090 | Associations between Rs4244285 and Rs762551 gene polymorphisms and age-related macular degeneration. | Stasiukonyte N et al. | 2017 | Ophthalmic genetics |
28178648 | Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer. | Kuo SH et al. | 2017 | Oncotarget |
28280103 | Association of genetic variant and platelet function in patients undergoing neuroendovascular stenting. | Li XG et al. | 2017 | Postgraduate medical journal |
28321040 | Whole exome sequencing detects variants of genes that mediate response to anticancer drugs. | Ohnami S et al. | 2017 | The Journal of toxicological sciences |
28343093 | Influence of genetic variants of CYP2D6, CYP2C9, CYP2C19 and CYP3A4 on antiepileptic drug metabolism in pediatric patients with refractory epilepsy. | López-García MA et al. | 2017 | Pharmacological reports |
28378544 | Effects of CYP2C19 Genetic Polymorphisms on PK/PD Responses of Omeprazole in Korean Healthy Volunteers. | Park S et al. | 2017 | Journal of Korean medical science |
28513222 | The contribution of CYP2C gene subfamily involved in epoxygenase pathway of arachidonic acids metabolism to hypertension susceptibility in Russian population. | Polonikov A et al. | 2017 | Clinical and experimental hypertension (New York, N.Y. |
28604225 | The impact of clinical and genetic factors on ticagrelor and clopidogrel antiplatelet therapy. | Tatarunas V et al. | 2017 | Pharmacogenomics |
28652652 | Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update. | Sharma A et al. | 2017 | World journal of gastroenterology |
28687336 | Polymorphisms of CYP2C8, CYP2C9 and CYP2C19 and risk of coronary heart disease in Russian population. | Polonikov A et al. | 2017 | Gene |
28785581 | CYP2C19(⁎)2 Polymorphism in Chilean Patients with In-Stent Restenosis Development and Controls. | Ruedlinger J et al. | 2017 | BioMed research international |
28806186 | The impact of CYP2C19*2, CYP4F2*3, and clinical factors on platelet aggregation, CYP4F2 enzyme activity, and 20-hydroxyeicosatetraenoic acid concentration in patients treated with dual antiplatelet therapy. | Tatarunas V et al. | 2017 | Blood coagulation & fibrinolysis |
29033601 | Urine metabolic ratio of omeprazole in relation to CYP2C19 polymorphisms in Russian peptic ulcer patients. | Denisenko NP et al. | 2017 | Pharmacogenomics and personalized medicine |
29167499 | A Novel Multiplex HRM Assay to Detect Clopidogrel Resistance. | Zhang L et al. | 2017 | Scientific reports |
29193749 | Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years. | Borobia AM et al. | 2018 | Clinical and translational science |
29260275 | Analysis of the CYP2C19 genotype associated with bleeding in Serbian STEMI patients who have undergone primary PCI and treatment with clopidogrel. | Novkovic M et al. | 2018 | European journal of clinical pharmacology |
29407631 | Genetic mutations in PEAR1 associated with cardiovascular outcomes in Chinese patients with acute coronary syndrome. | Nie XY et al. | 2018 | Thrombosis research |
29449662 | Assessment of interaction between maternal polycyclic aromatic hydrocarbons exposure and genetic polymorphisms on the risk of congenital heart diseases. | Li N et al. | 2018 | Scientific reports |
29461866 | The Prognostic Value of Combinations of Genetic Polymorphisms in the ITGB3, ITGA2, and CYP2C19*2 Genes in Predicting Cardiovascular Outcomes After Coronary Bypass Grafting. | Grinshtein YI et al. | 2018 | Genetic testing and molecular biomarkers |
29478129 | Gene polymorphisms in dual antiplatelet therapy and the presence of hypo-attenuated leaflet thickening after transcatheter aortic valve replacement. | Xiong TY et al. | 2018 | Journal of thrombosis and thrombolysis |
29482947 | Pharmacogenetics as Personalized Medicine: Association Investigation of SOD2 rs4880, CYP2C19 rs4244285, and FCGR2A rs1801274 Polymorphisms in a Breast Cancer Population in Iraqi Women. | Jabir FA et al. | 2018 | Clinical breast cancer |
29517409 | Genetic predictors of efficacy and toxicity of iguratimod in patients with rheumatoid arthritis. | Xiao W et al. | 2018 | Pharmacogenomics |
29623639 | Pharmacogenetics of Opioid Use Disorder Treatment. | Crist RC et al. | 2018 | CNS drugs |
29666902 | Effect of CYP2C19, UGT1A8, and UGT2B7 on valproic acid clearance in children with epilepsy: a population pharmacokinetic model. | Mei S et al. | 2018 | European journal of clinical pharmacology |
29681089 | Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida. | Padula AM et al. | 2018 | American journal of medical genetics. Part A |
29756345 | Common Polymorphisms of CYP2B6 Influence Stereoselective Bupropion Disposition. | Kharasch ED et al. | 2019 | Clinical pharmacology and therapeutics |
29804161 | Dual therapy with clopidogrel and aspirin prevents early neurological deterioration in ischemic stroke patients carrying CYP2C19*2 reduced-function alleles. | Lin J et al. | 2018 | European journal of clinical pharmacology |
29950882 | CYP3A and CYP2C19 activity in urine in relation to CYP3A4, CYP3A5, and CYP2C19 polymorphisms in Russian peptic ulcer patients taking omeprazole. | Denisenko NP et al. | 2018 | Pharmacogenomics and personalized medicine |
30068618 | Cohort Profile: the Predictors of Breast Cancer Recurrence (ProBe CaRE) Premenopausal Breast Cancer Cohort Study in Denmark. | Collin LJ et al. | 2018 | BMJ open |
30081812 | [Possible Genetic Predictors of Cardiovascular Complications After Coronary Artery Bypass Surgery]. | Grinshtein YI et al. | 2018 | Kardiologiia |
30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
30096456 | CRISPLD1 rs12115090 polymorphisms alters antiplatelet potency of clopidogrel in coronary artery disease patients in Chinese Han. | Wang JY et al. | 2018 | Gene |
30128710 | Aspirin plus clopidogrel may reduce the risk of early neurologic deterioration in ischemic stroke patients carrying CYP2C19*2 reduced-function alleles. | Yi X et al. | 2018 | Journal of neurology |
30135031 | Effect of cytochrome CYP2C19 metabolizing activity on antidepressant response and side effects: Meta-analysis of data from genome-wide association studies. | Fabbri C et al. | 2018 | European neuropsychopharmacology |
30606386 | [Correlation between CYP2C19 Gene Polymorphism and Elderly Cerebral Infarction]. | Fan DJ et al. | 2018 | Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae |
30706164 | Effects of MAO-A and CYP450 on primaquine metabolism in healthy volunteers. | Ariffin NM et al. | 2019 | Parasitology research |
30742211 | Association Between ABCB1 Polymorphisms and Outcomes of Clopidogrel Treatment in Patients With Minor Stroke or Transient Ischemic Attack: Secondary Analysis of a Randomized Clinical Trial. | Pan Y et al. | 2019 | JAMA neurology |
30758238 | Development and Cross-Validation of High-Resolution Melting Analysis-Based Cardiovascular Pharmacogenetics Genotyping Panel. | Langaee T et al. | 2019 | Genetic testing and molecular biomarkers |
30826566 | CYP2C19*2 polymorphism in Polish peptic ulcer patients. | Sałagacka-Kubiak A et al. | 2019 | Pharmacological reports |
31019283 | Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. | Thauvin-Robinet C et al. | 2019 | European journal of human genetics |
31086207 | Implications of genetic variation of common Drug Metabolizing Enzymes and ABC Transporters among the Pakistani Population. | Afsar NA et al. | 2019 | Scientific reports |
31184624 | [Genetic and non-genetic factors of laboratory resistance to clopidogrel in patients with ischemic stroke]. | Sychev DA et al. | 2019 | Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova |
31270413 | ||||
31543510 | Association of CYP2C19 Polymorphism with Clopidogrel Resistance in Patients with Acute Coronary Syndrome in China. | Su Q et al. | 2019 | Medical science monitor |
31807051 | Antihypertensive Effect Of Amlodipine In Co-Administration With Omeprazole In Patients With Hypertension And Acid-Related Disorders: Cytochrome P450-Associated Aspects. | Dorofeeva MN et al. | 2019 | Pharmacogenomics and personalized medicine |
31821471 | Polymorphisms and endometriosis: a systematic review and meta-analyses. | Méar L et al. | 2020 | Human reproduction update |
31870130 | Association of CYP1A1 rs1048943 Polymorphism with Prostate Cancer in Iraqi Men Patients. | Hoidy WH et al. | 2019 | Asian Pacific journal of cancer prevention |
31957548 | Effects of CYP2C19*2 polymorphisms on the efficacy and safety of phenazepam in patients with anxiety disorder and comorbid alcohol use disorder. | Zastrozhin MS et al. | 2020 | Pharmacogenomics |
31998606 | New insights of CYP1A in endogenous metabolism: a focus on single nucleotide polymorphisms and diseases. | Lu J et al. | 2020 | Acta pharmaceutica Sinica. B |
32001263 | Coding SNPs in hsa-miR-1343-3p and hsa-miR-6783-3p target sites of CYP2C19 modulates clopidogrel response in individuals with cardiovascular diseases. | Sharma AR et al. | 2020 | Life sciences |
32134726 | How do CYP2C19*2 and CYP2C19*17 genetic polymorphisms affect the efficacy and safety of diazepam in patients with alcohol withdrawal syndrome? | Skryabin VY et al. | 2020 | Drug metabolism and personalized therapy |
32158254 | CYP2C19*17 May Increase the Risk of Death Among Patients with an Acute Coronary Syndrome and Non-Valvular Atrial Fibrillation Who Receive Clopidogrel and Rivaroxaban. | Sychev DA et al. | 2020 | Pharmacogenomics and personalized medicine |
32228310 | Functionally Significant Coumarin-Related Variant Alleles and Time to Therapeutic Range in Chilean Cardiovascular Patients. | Rojo M et al. | 2020 | Clinical and applied thrombosis/hemostasis |
32303955 | Clinically relevant pharmacogenetic markers in Tatars and Balkars. | Abdullaev SP et al. | 2020 | Molecular biology reports |
32326111 | Role of Genetic Variations in the Hepatic Handling of Drugs. | Marin JJG et al. | 2020 | International journal of molecular sciences |
32345264 | Variants in clopidogrel-relevant genes and early neurological deterioration in ischemic stroke patients receiving clopidogrel. | Yi X et al. | 2020 | BMC neurology |
32392440 | The Frequency of the Minor Polymorphisms in the CYP2C19, VEGFR-2 Genes, and Clinical Outcomes in Russian and Buryat Patients with Acute Coronary Syndrome. | Zelenskaya EM et al. | 2020 | Genetic testing and molecular biomarkers |
32472697 | Genomewide Association Study of Platelet Reactivity and Cardiovascular Response in Patients Treated With Clopidogrel: A Study by the International Clopidogrel Pharmacogenomics Consortium. | Verma SS et al. | 2020 | Clinical pharmacology and therapeutics |
32567426 | An association between the rs1799853 and rs1057910 polymorphisms of CYP2C9, the rs4244285 polymorphism of CYP2C19 and the prevalence rates of drug-resistant epilepsy in children. | Makowska M et al. | 2021 | The International journal of neuroscience |
32607875 | Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing. | Yin A et al. | 2021 | Clinical pharmacokinetics |
32639515 | Bayesian Pathway Analysis for Complex Interactions. | Baurley JW et al. | 2020 | American journal of epidemiology |
32862511 | Distribution of CYP2C19, ABCB1 and PON1 polymorphisms in Chinese Han, Hui, Uygur and Kazak patients with coronary atherosclerotic heart disease. | Ma L et al. | 2020 | International journal of immunogenetics |
32872162 | Pharmacogenomics to Predict Tumor Therapy Response: A Focus on ATP-Binding Cassette Transporters and Cytochromes P450. | Hlaváč V et al. | 2020 | Journal of personalized medicine |
33093222 | F2R Polymorphisms and Clopidogrel Efficacy and Safety in Patients With Minor Stroke or TIA. | Pan Y et al. | 2021 | Neurology |
33124772 | Impact of CYP2C19, CYP3A4, ABCB1, and FMO3 genotypes on plasma voriconazole in Thai patients with invasive fungal infections. | Chuwongwattana S et al. | 2020 | Pharmacology research & perspectives |
33192522 | Pleiotropic Functions of Cytochrome P450 Monooxygenase-Derived Eicosanoids in Cancer. | Luo Y et al. | 2020 | Frontiers in pharmacology |
33217013 | Evaluation of clinical and genetic factors in the population pharmacokinetics of carbamazepine. | Yip VLM et al. | 2021 | British journal of clinical pharmacology |
33423267 | [Association of CYP2C19 and CYP3A5 gene polymorphisms with myocardial infarction]. | Qi L et al. | 2021 | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics |
33430289 | Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans. | Han N et al. | 2021 | Journal of personalized medicine |
33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
33569925 | Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects. | Padula AM et al. | 2021 | Birth defects research |
33580125 | Preservation of epoxyeicosatrienoic acid bioavailability prevents renal allograft dysfunction and cardiovascular alterations in kidney transplant recipients. | Duflot T et al. | 2021 | Scientific reports |
33804537 | Pharmacogenetics of Carbamazepine and Valproate: Focus on Polymorphisms of Drug Metabolizing Enzymes and Transporters. | Iannaccone T et al. | 2021 | Pharmaceuticals (Basel, Switzerland) |
33805706 | SLCO1B1 Phenotype and CYP3A5 Polymorphism Significantly Affect Atorvastatin Bioavailability. | Zubiaur P et al. | 2021 | Journal of personalized medicine |
33875422 | Pharmacogene Sequencing of a Gabonese Population with Severe Plasmodium falciparum Malaria Reveals Multiple Novel Variants with Putative Relevance for Antimalarial Treatment. | Pernaute-Lau L et al. | 2021 | Antimicrobial agents and chemotherapy |
33995083 | Dexketoprofen Pharmacokinetics is not Significantly Altered by Genetic Polymorphism. | Mejía-Abril G et al. | 2021 | Frontiers in pharmacology |
34062203 | Variation in biomarker levels of metals, persistent organic pollutants, and omega-3 fatty acids in association with genetic polymorphisms among Inuit in Nunavik, Canada. | Parajuli RP et al. | 2021 | Environmental research |
34163711 | Universal and high-fidelity DNA single nucleotide polymorphism detection based on a CRISPR/Cas12a biochip. | Chen Y et al. | 2021 | Chemical science |
34382722 | Profiling of warfarin pharmacokinetics-associated genetic variants: Black Africans portray unique genetic markers important for an African specific warfarin pharmacogenetics-dosing algorithm. | Ndadza A et al. | 2021 | Journal of thrombosis and haemostasis |
34385834 | Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process. | Borro M et al. | 2021 | Pharmacogenomics and personalized medicine |
34415683 | Pharmacogenomic polygenic risk score for clopidogrel responsiveness among Caribbean Hispanics: A candidate gene approach. | Duconge J et al. | 2021 | Clinical and translational science |
34429635 | Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population. | He C et al. | 2021 | Pharmacogenomics and personalized medicine |
34434063 | Genetic Polymorphisms of Pesticide-Metabolizing Enzymes and Transporters in Agricultural Workers and Thyroid Hormone Levels. | Sirivarasai J et al. | 2021 | Risk management and healthcare policy |
34621706 | Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. | Kim B et al. | 2021 | Translational and clinical pharmacology |
34690761 | Effects of Cytochrome P450 and Transporter Polymorphisms on the Bioavailability and Safety of Dutasteride and Tamsulosin. | Villapalos-García G et al. | 2021 | Frontiers in pharmacology |
34747629 | Frequency and impact of DHODH, ABCG2 and CYP2C19 SNPs on the therapeutic efficacy, tolerability and toxicity of leflunomide. | Makarem YS et al. | 2021 | Pharmacogenomics |
34798807 | Genetic analysis of pharmacogenomic VIP variants in the Wa population from Yunnan Province of China. | Li D et al. | 2021 | BMC genomic data |
34848811 | Effect of CYP2C19 polymorphisms on serum valproic level acid in Chinese Han patients with schizophrenia. | Wang S et al. | 2021 | Scientific reports |
34920277 | Assessment of susceptibility to phthalate and DINCH exposure through CYP and UGT single nucleotide polymorphisms. | Stajnko A et al. | 2022 | Environment international |
34949935 | Genetic Polymorphisms of Very Important Pharmacogene Variants in the Blang Population from Yunnan Province in China. | Wang Y et al. | 2021 | Pharmacogenomics and personalized medicine |
34958284 | Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes. | Muyambo S et al. | 2022 | Omics |
35089958 | Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population. | Goljan E et al. | 2022 | PloS one |
35235711 | Evaluation of the relationship between polymorphisms in CYP2C19 and the single-dose pharmacokinetics of omeprazole in healthy Chinese volunteers: A multicenter study. | Zhou S et al. | 2022 | Clinical and translational science |
35572141 | Polymorphisms of Cytochromes P450 and Glutathione S-Transferases Synergistically Modulate Risk for Parkinson's Disease. | Fan HH et al. | 2022 | Frontiers in aging neuroscience |
35574727 | Population features of alleles and genotypes frequency distribution of polymorphic genetic markers of antipsychotic medications pharmacokinetics in the Kazakh population. | Saduakassova KZ et al. | 2022 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
35646073 | SLC4A4, FRAS1, and SULT1A1 Genetic Variations Associated With Dabigatran Metabolism in a Healthy Chinese Population. | Xie Q et al. | 2022 | Frontiers in genetics |
35761855 | Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective. | Nthontho KC et al. | 2022 | Pharmacogenomics and personalized medicine |
35846994 | Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing. | Silgado-Guzmán DF et al. | 2022 | Frontiers in pharmacology |
35929455 | Impact of Insulin Receptor Substrate-1 rs956115 and CYP2C19 rs4244285 Genotypes on Clinical Outcome of Patients Undergoing Percutaneous Coronary Intervention. | Zong J et al. | 2022 | Journal of the American Heart Association |
36065758 | CYP2C8*3 and *4 define CYP2C8 phenotype: An approach with the substrate cinitapride. | Campodónico DM et al. | 2022 | Clinical and translational science |
36164570 | Prevalence of exposure to pharmacogenetic drugs by the Saudis treated at the health care centers of the Ministry of National Guard. | Alshabeeb MA et al. | 2022 | Saudi pharmaceutical journal |
36211438 | Association between gene polymorphisms in the cyclophosphamide metabolism pathway with complications after haploidentical hematopoietic stem cell transplantation. | Muñiz P et al. | 2022 | Frontiers in immunology |
36222113 | Impact of CYP2C19 gene polymorphisms on warfarin dose requirement: a systematic review and meta-analysis. | Wang D et al. | 2022 | Pharmacogenomics |
36245136 | Nutritional and genetic determinants of essential hypertension among adult respondents of the 2013 national nutrition survey, Philippines: a preliminary observational study. | Zumaraga MPP et al. | 2022 | The Journal of nutritional biochemistry |
36333412 | Effect of CYP2C19 polymorphisms on antidepressant prescription patterns and treatment emergent mania in bipolar disorder. | Joas E et al. | 2023 | The pharmacogenomics journal |
36404298 | Genome-wide analyses identify novel risk loci for cluster headache in Han Chinese residing in Taiwan. | Chen SP et al. | 2022 | The journal of headache and pain |
36453946 | Genetic variations in relation to bleeding and pharmacodynamics of dabigatran in Chinese patients with nonvalvular atrial fibrillation: A nationwide multicentre prospective cohort study. | Xiang Q et al. | 2022 | Clinical and translational medicine |
36825998 | SNPs Sets in Codifying Genes for Xenobiotics-Processing Enzymes Are Associated with COPD Secondary to Biomass-Burning Smoke. | Ambrocio-Ortiz E et al. | 2023 | Current issues in molecular biology |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.