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.
rs4986893
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr10:94780653 (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>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.007217 (2525/349862, ALFA)A=0.002671 (707/264690, TOPMED)A=0.002514 (375/149148, GnomAD_genomes) (+ 19 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYP2C19 : Stop Gained
- Publications
- 165 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.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 349862 | G=0.992783 | A=0.007217 | 0.990556 | 0.004991 | 0.004453 | 32 |
| European | Sub | 297200 | G=0.994391 | A=0.005609 | 0.994206 | 0.005424 | 0.00037 | 32 |
| African | Sub | 13644 | G=0.99956 | A=0.00044 | 0.99912 | 0.0 | 0.00088 | 0 |
| African Others | Sub | 504 | G=0.998 | A=0.002 | 0.996032 | 0.0 | 0.003968 | 0 |
| African American | Sub | 13140 | G=0.99962 | A=0.00038 | 0.999239 | 0.0 | 0.000761 | 0 |
| Asian | Sub | 6970 | G=0.9192 | A=0.0808 | 0.846198 | 0.007747 | 0.146055 | 1 |
| East Asian | Sub | 5002 | G=0.9214 | A=0.0786 | 0.85046 | 0.007597 | 0.141943 | 1 |
| Other Asian | Sub | 1968 | G=0.9136 | A=0.0864 | 0.835366 | 0.00813 | 0.156504 | 0 |
| Latin American 1 | Sub | 1410 | G=0.9993 | A=0.0007 | 0.998582 | 0.0 | 0.001418 | 0 |
| Latin American 2 | Sub | 3104 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 5222 | G=0.9967 | A=0.0033 | 0.993489 | 0.0 | 0.006511 | 0 |
| Other | Sub | 22312 | G=0.98785 | A=0.01215 | 0.979294 | 0.003586 | 0.017121 | 32 |
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").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 349862 | G=0.992783 | A=0.007217 |
| Allele Frequency Aggregator | European | Sub | 297200 | G=0.994391 | A=0.005609 |
| Allele Frequency Aggregator | Other | Sub | 22312 | G=0.98785 | A=0.01215 |
| Allele Frequency Aggregator | African | Sub | 13644 | G=0.99956 | A=0.00044 |
| Allele Frequency Aggregator | Asian | Sub | 6970 | G=0.9192 | A=0.0808 |
| Allele Frequency Aggregator | South Asian | Sub | 5222 | G=0.9967 | A=0.0033 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 3104 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1410 | G=0.9993 | A=0.0007 |
| TopMed | Global | Study-wide | 264690 | G=0.997329 | A=0.002671 |
| gnomAD v4 - Genomes | Global | Study-wide | 149148 | G=0.997486 | A=0.002514 |
| gnomAD v4 - Genomes | European | Sub | 78554 | G=0.99985 | A=0.00015 |
| gnomAD v4 - Genomes | African | Sub | 41550 | G=0.99961 | A=0.00039 |
| gnomAD v4 - Genomes | American | Sub | 15288 | G=0.99948 | A=0.00052 |
| gnomAD v4 - Genomes | East Asian | Sub | 5168 | G=0.9390 | A=0.0610 |
| gnomAD v4 - Genomes | South Asian | Sub | 4824 | G=0.9950 | A=0.0050 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3470 | G=1.0000 | A=0.0000 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 294 | G=1.000 | A=0.000 |
| ExAC | Global | Study-wide | 121120 | G=0.994493 | A=0.005507 |
| ExAC | Europe | Sub | 73296 | G=0.99982 | A=0.00018 |
| ExAC | Asian | Sub | 25154 | G=0.97444 | A=0.02556 |
| ExAC | American | Sub | 11488 | G=0.99956 | A=0.00044 |
| ExAC | African | Sub | 10276 | G=0.99951 | A=0.00049 |
| ExAC | Other | Sub | 906 | G=0.999 | A=0.001 |
| The PAGE Study | Global | Study-wide | 78702 | G=0.98656 | A=0.01344 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | G=0.99972 | A=0.00028 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.99972 | A=0.00028 |
| The PAGE Study | Asian | Sub | 8318 | G=0.8904 | A=0.1096 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.9995 | A=0.0005 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.9735 | A=0.0265 |
| The PAGE Study | Cuban | Sub | 4230 | G=0.9993 | A=0.0007 |
| The PAGE Study | Dominican | Sub | 3828 | G=1.0000 | A=0.0000 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.9992 | A=0.0008 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.9995 | A=0.0005 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.9992 | A=0.0008 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.996 | A=0.004 |
| 38KJPN | JAPANESE | Study-wide | 77432 | G=0.86883 | A=0.13117 |
| Korean Genome Project 4K | KOREAN | Study-wide | 7230 | G=0.9006 | A=0.0994 |
| 1000Genomes_30X | Global | Study-wide | 6404 | G=0.9869 | A=0.0131 |
| 1000Genomes_30X | African | Sub | 1786 | G=0.9978 | A=0.0022 |
| 1000Genomes_30X | Europe | Sub | 1266 | G=1.0000 | A=0.0000 |
| 1000Genomes_30X | South Asian | Sub | 1202 | G=0.9859 | A=0.0141 |
| 1000Genomes_30X | East Asian | Sub | 1170 | G=0.9462 | A=0.0538 |
| 1000Genomes_30X | American | Sub | 980 | G=1.000 | A=0.000 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.9858 | A=0.0142 |
| 1000Genomes | African | Sub | 1322 | G=0.9977 | A=0.0023 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.9444 | A=0.0556 |
| 1000Genomes | Europe | Sub | 1006 | G=1.0000 | A=0.0000 |
| 1000Genomes | South Asian | Sub | 978 | G=0.988 | A=0.012 |
| 1000Genomes | American | Sub | 694 | G=1.000 | A=0.000 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.9993 | A=0.0007 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.9995 | A=0.0005 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.9995 | A=0.0005 |
| MxGDAR/Encodat-PGx | Global | Study-wide | 3296 | G=0.9982 | A=0.0018 |
| MxGDAR/Encodat-PGx | MxGDAR | Sub | 3296 | G=0.9982 | A=0.0018 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | G=0.9018 | A=0.0982 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.9072 | A=0.0928 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1128 | G=0.9902 | A=0.0098 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 626 | G=1.000 | A=0.000 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | G=1.000 | A=0.000 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 120 | G=0.942 | A=0.058 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | G=1.000 | A=0.000 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 94 | G=0.96 | A=0.04 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | G=1.00 | A=0.00 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | G=0.967 | A=0.033 |
| PharmGKB Aggregated | Global | Study-wide | 356 | G=0.958 | A=0.042 |
| PharmGKB Aggregated | PA150052505 | Sub | 356 | G=0.958 | A=0.042 |
| Qatari | Global | Study-wide | 216 | G=0.986 | A=0.014 |
| SGDP_PRJ | Global | Study-wide | 40 | G=0.47 | A=0.53 |
| Siberian | Global | Study-wide | 2 | G=0.5 | A=0.5 |
Help
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.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.94780653G>A |
| GRCh38.p14 chr 10 | NC_000010.11:g.94780653G>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.96540410G>A |
| GRCh37.p13 chr 10 | NC_000010.10:g.96540410G>T |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.22973G>A |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.22973G>T |
Gene: CYP2C19, cytochrome P450 family 2 subfamily C member 19
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYP2C19 transcript | NM_000769.4:c.636G>A | W [TGG] > * [TGA] | Coding Sequence Variant |
| cytochrome P450 2C19 | NP_000760.1:p.Trp212Ter | W (Trp) > * (Ter) | Stop Gained |
| CYP2C19 transcript | NM_000769.4:c.636G>T | W [TGG] > C [TGT] | Coding Sequence Variant |
| cytochrome P450 2C19 | NP_000760.1:p.Trp212Cys | W (Trp) > C (Cys) | Missense Variant |
Help
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.
Allele: A (allele ID:
31938
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000018397.36 | Mephenytoin, poor metabolism of | Drug-Response |
| RCV000018398.36 | Proguanil, poor metabolism of | Drug-Response |
| RCV000291495.14 | not provided | Benign,Other |
| RCV000782441.10 | Clopidogrel response | Drug-Response |
| RCV000782449.10 | Clopidogrel response | Drug-Response |
| RCV000782521.10 | Escitalopram response | Drug-Response |
| RCV000782522.10 | Citalopram response | Drug-Response |
| RCV000782523.10 | Escitalopram response | Drug-Response |
| RCV000782524.11 | Citalopram response | Drug-Response |
| RCV000782525.11 | Escitalopram response | Drug-Response |
| RCV000782526.10 | Citalopram response | Drug-Response |
| RCV000782527.10 | Escitalopram response | Drug-Response |
| RCV000782528.10 | Citalopram response | Drug-Response |
| RCV000782645.10 | Citalopram response | Drug-Response |
| RCV000782646.10 | Escitalopram response | Drug-Response |
| RCV000782647.10 | Citalopram response | Drug-Response |
| RCV000782648.10 | Escitalopram response | Drug-Response |
| RCV000782649.10 | Citalopram response | Drug-Response |
| RCV000782693.10 | Citalopram response | Drug-Response |
| RCV000782694.10 | Escitalopram response | Drug-Response |
| RCV000782707.11 | Citalopram response | Drug-Response |
| RCV000782708.11 | Escitalopram response | Drug-Response |
| RCV000782709.10 | Citalopram response | Drug-Response |
| RCV000782710.10 | Escitalopram response | Drug-Response |
| RCV000782711.9 | Citalopram response | Drug-Response |
| RCV000782712.9 | Escitalopram response | Drug-Response |
| RCV000782713.10 | Citalopram response | Drug-Response |
| RCV000782714.10 | Escitalopram response | Drug-Response |
| RCV000782715.10 | Citalopram response | Drug-Response |
| RCV000782952.10 | Escitalopram response | Drug-Response |
| RCV000782953.10 | Citalopram response | Drug-Response |
| RCV000782954.10 | Escitalopram response | Drug-Response |
| RCV000782955.10 | Citalopram response | Drug-Response |
| RCV000782956.10 | Escitalopram response | Drug-Response |
| RCV000782957.10 | Citalopram response | Drug-Response |
| RCV000782958.10 | Escitalopram response | Drug-Response |
| RCV000782959.10 | Citalopram response | Drug-Response |
| RCV000783068.10 | Sertraline response | Drug-Response |
| RCV000783084.10 | Sertraline response | Drug-Response |
| RCV000783085.10 | Sertraline response | Drug-Response |
| RCV000783086.10 | Sertraline response | Drug-Response |
| RCV000783087.11 | Sertraline response | Drug-Response |
| RCV000783088.10 | Sertraline response | Drug-Response |
| RCV000783089.10 | Sertraline response | Drug-Response |
| RCV000783147.10 | Sertraline response | Drug-Response |
| RCV000783148.10 | Sertraline response | Drug-Response |
| RCV000783149.10 | Sertraline response | Drug-Response |
| RCV000783179.10 | Sertraline response | Drug-Response |
| RCV000783180.10 | Sertraline response | Drug-Response |
| RCV000783181.10 | Sertraline response | Drug-Response |
| RCV000783302.10 | Sertraline response | Drug-Response |
| RCV000783303.10 | Sertraline response | Drug-Response |
| RCV000783304.10 | Sertraline response | Drug-Response |
| RCV000783305.10 | Sertraline response | Drug-Response |
| RCV000783306.10 | Sertraline response | Drug-Response |
| RCV000783307.10 | Sertraline response | Drug-Response |
| RCV000783308.10 | Sertraline response | Drug-Response |
| RCV000783309.10 | Sertraline response | Drug-Response |
| RCV000783449.10 | Voriconazole response | Drug-Response |
| RCV000783450.10 | Voriconazole response | Drug-Response |
| RCV000783451.10 | Voriconazole response | Drug-Response |
| RCV000783452.10 | Voriconazole response | Drug-Response |
| RCV000783453.10 | Voriconazole response | Drug-Response |
| RCV000783454.10 | Voriconazole response | Drug-Response |
| RCV000783503.10 | Voriconazole response | Drug-Response |
| RCV000783519.10 | Voriconazole response | Drug-Response |
| RCV000783520.10 | Voriconazole response | Drug-Response |
| RCV000783521.10 | Voriconazole response | Drug-Response |
| RCV000783579.10 | Voriconazole response | Drug-Response |
| RCV000783580.10 | Voriconazole response | Drug-Response |
| RCV000783581.10 | Voriconazole response | Drug-Response |
| RCV000783582.10 | Voriconazole response | Drug-Response |
| RCV000783583.10 | Voriconazole response | Drug-Response |
| RCV000783584.10 | Voriconazole response | Drug-Response |
| RCV000783614.10 | Voriconazole response | Drug-Response |
| RCV000783621.9 | Voriconazole response | Drug-Response |
| RCV000783622.10 | Voriconazole response | Drug-Response |
| RCV000783623.10 | Voriconazole response | Drug-Response |
| RCV000783624.10 | Voriconazole response | Drug-Response |
| RCV000783625.10 | Voriconazole response | Drug-Response |
| RCV000783626.10 | Voriconazole response | Drug-Response |
| RCV000783656.9 | CYP2C19: no function | Drug-Response |
| RCV000783667.11 | Clopidogrel response | Drug-Response |
| RCV000783674.11 | Clopidogrel response | Drug-Response |
| RCV000783675.9 | Clopidogrel response | Drug-Response |
| RCV000783676.10 | Clopidogrel response | Drug-Response |
| RCV000783677.10 | Clopidogrel response | Drug-Response |
| RCV000783678.10 | Clopidogrel response | Drug-Response |
| RCV000783679.10 | Clopidogrel response | Drug-Response |
| RCV000783680.10 | Clopidogrel response | Drug-Response |
| RCV000783717.10 | Citalopram response | Drug-Response |
| RCV000783718.10 | Escitalopram response | Drug-Response |
| RCV000783749.10 | Citalopram response | Drug-Response |
| RCV000783750.10 | Escitalopram response | Drug-Response |
| RCV000783751.10 | Citalopram response | Drug-Response |
| RCV000783752.10 | Escitalopram response | Drug-Response |
| RCV000783877.10 | Escitalopram response | Drug-Response |
| RCV000783878.10 | Citalopram response | Drug-Response |
| RCV000783879.10 | Escitalopram response | Drug-Response |
| RCV000783880.10 | Citalopram response | Drug-Response |
| RCV000783881.10 | Escitalopram response | Drug-Response |
| RCV000783882.10 | Citalopram response | Drug-Response |
| RCV000783883.10 | Escitalopram response | Drug-Response |
| RCV000783937.10 | Citalopram response | Drug-Response |
| RCV000783938.10 | Escitalopram response | Drug-Response |
| RCV000783939.10 | Citalopram response | Drug-Response |
| RCV000783940.10 | Escitalopram response | Drug-Response |
| RCV000783941.10 | Escitalopram response | Drug-Response |
| RCV000783942.10 | Citalopram response | Drug-Response |
| RCV000783943.10 | Escitalopram response | Drug-Response |
| RCV000783944.10 | Citalopram response | Drug-Response |
| RCV000783945.10 | Escitalopram response | Drug-Response |
| RCV000783946.10 | Citalopram response | Drug-Response |
| RCV000783947.10 | Escitalopram response | Drug-Response |
| RCV000784182.10 | Citalopram response | Drug-Response |
| RCV000784183.10 | Escitalopram response | Drug-Response |
| RCV000784184.10 | Citalopram response | Drug-Response |
| RCV000784185.10 | Escitalopram response | Drug-Response |
| RCV000784186.10 | Citalopram response | Drug-Response |
| RCV000784187.10 | Escitalopram response | Drug-Response |
| RCV000784188.10 | Citalopram response | Drug-Response |
| RCV000784189.10 | Escitalopram response | Drug-Response |
| RCV000784190.10 | Citalopram response | Drug-Response |
| RCV000784191.10 | Escitalopram response | Drug-Response |
| RCV000784192.10 | Citalopram response | Drug-Response |
| RCV000784193.10 | Escitalopram response | Drug-Response |
| RCV000784382.10 | Sertraline response | Drug-Response |
| RCV000784383.10 | Sertraline response | Drug-Response |
| RCV000784384.10 | Sertraline response | Drug-Response |
| RCV000784406.10 | Sertraline response | Drug-Response |
| RCV000784410.10 | Sertraline response | Drug-Response |
| RCV000784411.10 | Sertraline response | Drug-Response |
| RCV000784412.11 | Sertraline response | Drug-Response |
| RCV000784413.10 | Sertraline response | Drug-Response |
| RCV000784414.9 | Sertraline response | Drug-Response |
| RCV000784415.10 | Sertraline response | Drug-Response |
| RCV000784416.10 | Sertraline response | Drug-Response |
| RCV000784539.10 | Sertraline response | Drug-Response |
| RCV000784540.10 | Sertraline response | Drug-Response |
| RCV000784688.10 | Voriconazole response | Drug-Response |
| RCV000784689.10 | Voriconazole response | Drug-Response |
| RCV000784690.10 | Voriconazole response | Drug-Response |
| RCV000784691.10 | Voriconazole response | Drug-Response |
| RCV000784753.11 | Voriconazole response | Drug-Response |
| RCV000784754.10 | Voriconazole response | Drug-Response |
| RCV000784755.10 | Voriconazole response | Drug-Response |
| RCV000784845.10 | Voriconazole response | Drug-Response |
| RCV000784846.10 | Voriconazole response | Drug-Response |
| RCV000784847.11 | Voriconazole response | Drug-Response |
| RCV000784848.10 | Voriconazole response | Drug-Response |
| RCV002280093.8 | Acute coronary syndrome | Drug-Response |
Help
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 | T |
|---|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.94780653= | NC_000010.11:g.94780653G>A | NC_000010.11:g.94780653G>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.96540410= | NC_000010.10:g.96540410G>A | NC_000010.10:g.96540410G>T |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.22973= | NG_008384.3:g.22973G>A | NG_008384.3:g.22973G>T |
| CYP2C19 transcript | NM_000769.4:c.636= | NM_000769.4:c.636G>A | NM_000769.4:c.636G>T |
| CYP2C19 transcript | NM_000769.3:c.636= | NM_000769.3:c.636G>A | NM_000769.3:c.636G>T |
| CYP2C19 transcript | NM_000769.2:c.636= | NM_000769.2:c.636G>A | NM_000769.2:c.636G>T |
| CYP2C19 transcript | NM_000769.1:c.636= | NM_000769.1:c.636G>A | NM_000769.1:c.636G>T |
| cytochrome P450 2C19 | NP_000760.1:p.Trp212= | NP_000760.1:p.Trp212Ter | NP_000760.1:p.Trp212Cys |
Help
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#.
143 SubSNP,
25 Frequency,
151 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SNP500CANCER | ss5586416 | Mar 31, 2003 (113) |
| 2 | BIOVENTURES | ss32475260 | May 24, 2005 (125) |
| 3 | PERLEGEN | ss69088132 | May 18, 2007 (127) |
| 4 | AFFY | ss74817613 | Aug 16, 2007 (128) |
| 5 | CGM_KYOTO | ss76867639 | Dec 06, 2007 (129) |
| 6 | PHARMGKB_AB_DME | ss84155553 | Dec 14, 2007 (130) |
| 7 | ILLUMINA | ss154334563 | Dec 01, 2009 (131) |
| 8 | ILLUMINA | ss159511086 | Dec 01, 2009 (131) |
| 9 | ILLUMINA | ss160735754 | Dec 01, 2009 (131) |
| 10 | ILLUMINA | ss173903419 | Jul 04, 2010 (132) |
| 11 | 1000GENOMES | ss241975892 | Jul 15, 2010 (132) |
| 12 | ILLUMINA | ss244302400 | Jul 04, 2010 (132) |
| 13 | OMIM-CURATED-RECORDS | ss275514384 | Nov 22, 2010 (133) |
| 14 | GMI | ss280732375 | May 04, 2012 (137) |
| 15 | NHLBI-ESP | ss342304120 | May 09, 2011 (134) |
| 16 | ILLUMINA | ss481125840 | May 04, 2012 (137) |
| 17 | ILLUMINA | ss481148001 | May 04, 2012 (137) |
| 18 | ILLUMINA | ss482136935 | Sep 08, 2015 (146) |
| 19 | ILLUMINA | ss485358000 | May 04, 2012 (137) |
| 20 | 1000GENOMES | ss491001639 | May 04, 2012 (137) |
| 21 | EXOME_CHIP | ss491438611 | May 04, 2012 (137) |
| 22 | CLINSEQ_SNP | ss491629938 | May 04, 2012 (137) |
| 23 | ILLUMINA | ss537302763 | Sep 08, 2015 (146) |
| 24 | TISHKOFF | ss562142954 | Apr 25, 2013 (138) |
| 25 | SSMP | ss657184036 | Apr 25, 2013 (138) |
| 26 | ILLUMINA | ss778927505 | Sep 08, 2015 (146) |
| 27 | ILLUMINA | ss780889001 | Sep 08, 2015 (146) |
| 28 | ILLUMINA | ss783124709 | Sep 08, 2015 (146) |
| 29 | ILLUMINA | ss783575247 | Sep 08, 2015 (146) |
| 30 | ILLUMINA | ss784081364 | Sep 08, 2015 (146) |
| 31 | ILLUMINA | ss832383532 | Sep 08, 2015 (146) |
| 32 | ILLUMINA | ss833022397 | Jul 13, 2019 (153) |
| 33 | ILLUMINA | ss834389006 | Sep 08, 2015 (146) |
| 34 | JMKIDD_LAB | ss1067514944 | Aug 21, 2014 (142) |
| 35 | JMKIDD_LAB | ss1077215442 | Aug 21, 2014 (142) |
| 36 | 1000GENOMES | ss1338623759 | Aug 21, 2014 (142) |
| 37 | HAMMER_LAB | ss1397589437 | Sep 08, 2015 (146) |
| 38 | EVA_UK10K_ALSPAC | ss1625196183 | Apr 01, 2015 (144) |
| 39 | EVA_UK10K_TWINSUK | ss1668190216 | Apr 01, 2015 (144) |
| 40 | EVA_EXAC | ss1690011909 | Apr 01, 2015 (144) |
| 41 | ILLUMINA | ss1751988277 | Sep 08, 2015 (146) |
| 42 | ILLUMINA | ss1751988278 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss1917849821 | Feb 12, 2016 (147) |
| 44 | WEILL_CORNELL_DGM | ss1931170545 | Feb 12, 2016 (147) |
| 45 | ILLUMINA | ss1946289779 | Feb 12, 2016 (147) |
| 46 | ILLUMINA | ss1946289780 | Feb 12, 2016 (147) |
| 47 | ILLUMINA | ss1959284949 | Feb 12, 2016 (147) |
| 48 | ILLUMINA | ss1959284950 | Feb 12, 2016 (147) |
| 49 | ILLUMINA | ss2094864997 | Dec 20, 2016 (150) |
| 50 | ILLUMINA | ss2095016474 | Dec 20, 2016 (150) |
| 51 | CAD-JSPH | ss2137544394 | Oct 16, 2022 (156) |
| 52 | USC_VALOUEV | ss2154590326 | Nov 08, 2017 (151) |
| 53 | HUMAN_LONGEVITY | ss2177148579 | Dec 20, 2016 (150) |
| 54 | SYSTEMSBIOZJU | ss2627625774 | Nov 08, 2017 (151) |
| 55 | ILLUMINA | ss2632748378 | Nov 08, 2017 (151) |
| 56 | ILLUMINA | ss2632748379 | Nov 08, 2017 (151) |
| 57 | GRF | ss2698843071 | Nov 08, 2017 (151) |
| 58 | ILLUMINA | ss2710717536 | Nov 08, 2017 (151) |
| 59 | GNOMAD | ss2738420805 | Nov 08, 2017 (151) |
| 60 | GNOMAD | ss2748441501 | Nov 08, 2017 (151) |
| 61 | GNOMAD | ss2892128483 | Nov 08, 2017 (151) |
| 62 | AFFY | ss2984919987 | Nov 08, 2017 (151) |
| 63 | AFFY | ss2985568271 | Nov 08, 2017 (151) |
| 64 | SWEGEN | ss3006966078 | Nov 08, 2017 (151) |
| 65 | ILLUMINA | ss3021264877 | Nov 08, 2017 (151) |
| 66 | ILLUMINA | ss3021264878 | Nov 08, 2017 (151) |
| 67 | ILLUMINA | ss3625584960 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3626509910 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3626509911 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3630771628 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3632960310 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3633657954 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3634417816 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3634417817 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3635350235 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3636102018 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3637100938 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3637867228 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3640125157 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3640125158 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3644542526 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3644542527 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3651623302 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3651623303 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3651623304 | Oct 12, 2018 (152) |
| 86 | ILLUMINA | ss3653690722 | Oct 12, 2018 (152) |
| 87 | EGCUT_WGS | ss3674378239 | Jul 13, 2019 (153) |
| 88 | ILLUMINA | ss3725179484 | Jul 13, 2019 (153) |
| 89 | ILLUMINA | ss3744074658 | Jul 13, 2019 (153) |
| 90 | ILLUMINA | ss3744369910 | Jul 13, 2019 (153) |
| 91 | ILLUMINA | ss3744718787 | Jul 13, 2019 (153) |
| 92 | ILLUMINA | ss3744718788 | Jul 13, 2019 (153) |
| 93 | EVA | ss3748468425 | Jul 13, 2019 (153) |
| 94 | PAGE_CC | ss3771575724 | Jul 13, 2019 (153) |
| 95 | ILLUMINA | ss3772219143 | Jul 13, 2019 (153) |
| 96 | ILLUMINA | ss3772219144 | Jul 13, 2019 (153) |
| 97 | KHV_HUMAN_GENOMES | ss3813834593 | Jul 13, 2019 (153) |
| 98 | EVA | ss3824540945 | Apr 26, 2020 (154) |
| 99 | SGDP_PRJ | ss3874827648 | Apr 26, 2020 (154) |
| 100 | KRGDB | ss3922955800 | Apr 26, 2020 (154) |
| 101 | KOGIC | ss3968458457 | Apr 26, 2020 (154) |
| 102 | EVA | ss3984449113 | Apr 26, 2021 (155) |
| 103 | EVA | ss3984639035 | Apr 26, 2021 (155) |
| 104 | EVA | ss3984639036 | Apr 26, 2021 (155) |
| 105 | EVA | ss3986493461 | Apr 26, 2021 (155) |
| 106 | EVA | ss4017501498 | Apr 26, 2021 (155) |
| 107 | TOPMED | ss4862628482 | Apr 26, 2021 (155) |
| 108 | TOMMO_GENOMICS | ss6114202028 | Nov 01, 2024 (157) |
| 109 | EVA | ss6253826796 | Nov 01, 2024 (157) |
| 110 | EVA | ss6307410284 | Nov 01, 2024 (157) |
| 111 | EVA | ss6321979702 | Nov 01, 2024 (157) |
| 112 | EVA | ss6322063340 | Nov 01, 2024 (157) |
| 113 | EVA | ss6332060693 | Nov 01, 2024 (157) |
| 114 | EVA | ss6349787542 | Nov 01, 2024 (157) |
| 115 | KOGIC | ss6382289068 | Nov 01, 2024 (157) |
| 116 | GNOMAD | ss6440423756 | Nov 01, 2024 (157) |
| 117 | GNOMAD | ss6440423757 | Nov 01, 2024 (157) |
| 118 | GNOMAD | ss6859879353 | Nov 01, 2024 (157) |
| 119 | TOMMO_GENOMICS | ss8198969242 | Nov 01, 2024 (157) |
| 120 | EVA | ss8236886079 | Nov 01, 2024 (157) |
| 121 | EVA | ss8237481901 | Nov 01, 2024 (157) |
| 122 | EVA | ss8237481902 | Nov 01, 2024 (157) |
| 123 | 1000G_HIGH_COVERAGE | ss8285088071 | Nov 01, 2024 (157) |
| 124 | TRAN_CS_UWATERLOO | ss8314429327 | Nov 01, 2024 (157) |
| 125 | EVA | ss8315494517 | Nov 01, 2024 (157) |
| 126 | EVA | ss8395323446 | Nov 01, 2024 (157) |
| 127 | HUGCELL_USP | ss8480548040 | Nov 01, 2024 (157) |
| 128 | EVA | ss8512473896 | Nov 01, 2024 (157) |
| 129 | 1000G_HIGH_COVERAGE | ss8579565060 | Nov 01, 2024 (157) |
| 130 | SANFORD_IMAGENETICS | ss8624255706 | Nov 01, 2024 (157) |
| 131 | SANFORD_IMAGENETICS | ss8649885990 | Nov 01, 2024 (157) |
| 132 | TOMMO_GENOMICS | ss8745187030 | Nov 01, 2024 (157) |
| 133 | EVA | ss8799403696 | Nov 01, 2024 (157) |
| 134 | YY_MCH | ss8811792434 | Nov 01, 2024 (157) |
| 135 | EVA | ss8847605632 | Nov 01, 2024 (157) |
| 136 | EVA | ss8880086106 | Nov 01, 2024 (157) |
| 137 | EVA | ss8941172563 | Nov 01, 2024 (157) |
| 138 | EVA | ss8979335326 | Nov 01, 2024 (157) |
| 139 | EVA | ss8981454535 | Nov 01, 2024 (157) |
| 140 | EVA | ss8981728086 | Nov 01, 2024 (157) |
| 141 | EVA | ss8981728087 | Nov 01, 2024 (157) |
| 142 | MYSEQ1_SNP | ss8982064788 | Nov 01, 2024 (157) |
| 143 | EVA | ss8982151828 | Nov 01, 2024 (157) |
| 144 | 1000Genomes | NC_000010.10 - 96540410 | Oct 12, 2018 (152) |
| 145 | 1000Genomes_30X | NC_000010.11 - 94780653 | Nov 01, 2024 (157) |
| 146 | The Avon Longitudinal Study of Parents and Children | NC_000010.10 - 96540410 | Oct 12, 2018 (152) |
| 147 | Genome-wide autozygosity in Daghestan | NC_000010.9 - 96530400 | Apr 26, 2020 (154) |
| 148 | Genetic variation in the Estonian population | NC_000010.10 - 96540410 | Oct 12, 2018 (152) |
| 149 | ExAC | NC_000010.10 - 96540410 | Oct 12, 2018 (152) |
| 150 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 01, 2024 (157) |
| 151 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 01, 2024 (157) |
| 152 | gnomAD v4 - Genomes | NC_000010.11 - 94780653 | Nov 01, 2024 (157) |
| 153 | KOREAN population from KRGDB | NC_000010.10 - 96540410 | Apr 26, 2020 (154) |
| 154 | Korean Genome Project | NC_000010.11 - 94780653 | Apr 26, 2020 (154) |
| 155 | Korean Genome Project 4K | NC_000010.11 - 94780653 | Nov 01, 2024 (157) |
| 156 | The PAGE Study | NC_000010.11 - 94780653 | Jul 13, 2019 (153) |
| 157 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 158 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 159 | MxGDAR/Encodat-PGx | NC_000010.10 - 96540410 | Apr 26, 2021 (155) |
| 160 | PharmGKB Aggregated | NC_000010.11 - 94780653 | Apr 26, 2020 (154) |
| 161 | Qatari | NC_000010.10 - 96540410 | Apr 26, 2020 (154) |
| 162 | SGDP_PRJ | NC_000010.10 - 96540410 | Apr 26, 2020 (154) |
| 163 | Siberian | NC_000010.10 - 96540410 | Apr 26, 2020 (154) |
| 164 | 38KJPN | NC_000010.11 - 94780653 | Nov 01, 2024 (157) |
| 165 | TopMed | NC_000010.11 - 94780653 | Apr 26, 2021 (155) |
| 166 | UK 10K study - Twins | NC_000010.10 - 96540410 | Oct 12, 2018 (152) |
| 167 | A Vietnamese Genetic Variation Database | NC_000010.10 - 96540410 | Jul 13, 2019 (153) |
| 168 | ALFA | NC_000010.11 - 94780653 | Nov 01, 2024 (157) |
| 169 | ClinVar | RCV000018397.36 | Nov 01, 2024 (157) |
| 170 | ClinVar | RCV000018398.36 | Nov 01, 2024 (157) |
| 171 | ClinVar | RCV000291495.14 | Nov 01, 2024 (157) |
| 172 | ClinVar | RCV000782441.10 | Nov 01, 2024 (157) |
| 173 | ClinVar | RCV000782449.10 | Nov 01, 2024 (157) |
| 174 | ClinVar | RCV000782521.10 | Nov 01, 2024 (157) |
| 175 | ClinVar | RCV000782522.10 | Nov 01, 2024 (157) |
| 176 | ClinVar | RCV000782523.10 | Nov 01, 2024 (157) |
| 177 | ClinVar | RCV000782524.11 | Nov 01, 2024 (157) |
| 178 | ClinVar | RCV000782525.11 | Nov 01, 2024 (157) |
| 179 | ClinVar | RCV000782526.10 | Nov 01, 2024 (157) |
| 180 | ClinVar | RCV000782527.10 | Nov 01, 2024 (157) |
| 181 | ClinVar | RCV000782528.10 | Nov 01, 2024 (157) |
| 182 | ClinVar | RCV000782645.10 | Nov 01, 2024 (157) |
| 183 | ClinVar | RCV000782646.10 | Nov 01, 2024 (157) |
| 184 | ClinVar | RCV000782647.10 | Nov 01, 2024 (157) |
| 185 | ClinVar | RCV000782648.10 | Nov 01, 2024 (157) |
| 186 | ClinVar | RCV000782649.10 | Nov 01, 2024 (157) |
| 187 | ClinVar | RCV000782693.10 | Nov 01, 2024 (157) |
| 188 | ClinVar | RCV000782694.10 | Nov 01, 2024 (157) |
| 189 | ClinVar | RCV000782707.11 | Nov 01, 2024 (157) |
| 190 | ClinVar | RCV000782708.11 | Nov 01, 2024 (157) |
| 191 | ClinVar | RCV000782709.10 | Nov 01, 2024 (157) |
| 192 | ClinVar | RCV000782710.10 | Nov 01, 2024 (157) |
| 193 | ClinVar | RCV000782711.9 | Nov 01, 2024 (157) |
| 194 | ClinVar | RCV000782712.9 | Nov 01, 2024 (157) |
| 195 | ClinVar | RCV000782713.10 | Nov 01, 2024 (157) |
| 196 | ClinVar | RCV000782714.10 | Nov 01, 2024 (157) |
| 197 | ClinVar | RCV000782715.10 | Nov 01, 2024 (157) |
| 198 | ClinVar | RCV000782952.10 | Nov 01, 2024 (157) |
| 199 | ClinVar | RCV000782953.10 | Nov 01, 2024 (157) |
| 200 | ClinVar | RCV000782954.10 | Nov 01, 2024 (157) |
| 201 | ClinVar | RCV000782955.10 | Nov 01, 2024 (157) |
| 202 | ClinVar | RCV000782956.10 | Nov 01, 2024 (157) |
| 203 | ClinVar | RCV000782957.10 | Nov 01, 2024 (157) |
| 204 | ClinVar | RCV000782958.10 | Nov 01, 2024 (157) |
| 205 | ClinVar | RCV000782959.10 | Nov 01, 2024 (157) |
| 206 | ClinVar | RCV000783068.10 | Nov 01, 2024 (157) |
| 207 | ClinVar | RCV000783084.10 | Nov 01, 2024 (157) |
| 208 | ClinVar | RCV000783085.10 | Nov 01, 2024 (157) |
| 209 | ClinVar | RCV000783086.10 | Nov 01, 2024 (157) |
| 210 | ClinVar | RCV000783087.11 | Nov 01, 2024 (157) |
| 211 | ClinVar | RCV000783088.10 | Nov 01, 2024 (157) |
| 212 | ClinVar | RCV000783089.10 | Nov 01, 2024 (157) |
| 213 | ClinVar | RCV000783147.10 | Nov 01, 2024 (157) |
| 214 | ClinVar | RCV000783148.10 | Nov 01, 2024 (157) |
| 215 | ClinVar | RCV000783149.10 | Nov 01, 2024 (157) |
| 216 | ClinVar | RCV000783179.10 | Nov 01, 2024 (157) |
| 217 | ClinVar | RCV000783180.10 | Nov 01, 2024 (157) |
| 218 | ClinVar | RCV000783181.10 | Nov 01, 2024 (157) |
| 219 | ClinVar | RCV000783302.10 | Nov 01, 2024 (157) |
| 220 | ClinVar | RCV000783303.10 | Nov 01, 2024 (157) |
| 221 | ClinVar | RCV000783304.10 | Nov 01, 2024 (157) |
| 222 | ClinVar | RCV000783305.10 | Nov 01, 2024 (157) |
| 223 | ClinVar | RCV000783306.10 | Nov 01, 2024 (157) |
| 224 | ClinVar | RCV000783307.10 | Nov 01, 2024 (157) |
| 225 | ClinVar | RCV000783308.10 | Nov 01, 2024 (157) |
| 226 | ClinVar | RCV000783309.10 | Nov 01, 2024 (157) |
| 227 | ClinVar | RCV000783449.10 | Nov 01, 2024 (157) |
| 228 | ClinVar | RCV000783450.10 | Nov 01, 2024 (157) |
| 229 | ClinVar | RCV000783451.10 | Nov 01, 2024 (157) |
| 230 | ClinVar | RCV000783452.10 | Nov 01, 2024 (157) |
| 231 | ClinVar | RCV000783453.10 | Nov 01, 2024 (157) |
| 232 | ClinVar | RCV000783454.10 | Nov 01, 2024 (157) |
| 233 | ClinVar | RCV000783503.10 | Nov 01, 2024 (157) |
| 234 | ClinVar | RCV000783519.10 | Nov 01, 2024 (157) |
| 235 | ClinVar | RCV000783520.10 | Nov 01, 2024 (157) |
| 236 | ClinVar | RCV000783521.10 | Nov 01, 2024 (157) |
| 237 | ClinVar | RCV000783579.10 | Nov 01, 2024 (157) |
| 238 | ClinVar | RCV000783580.10 | Nov 01, 2024 (157) |
| 239 | ClinVar | RCV000783581.10 | Nov 01, 2024 (157) |
| 240 | ClinVar | RCV000783582.10 | Nov 01, 2024 (157) |
| 241 | ClinVar | RCV000783583.10 | Nov 01, 2024 (157) |
| 242 | ClinVar | RCV000783584.10 | Nov 01, 2024 (157) |
| 243 | ClinVar | RCV000783614.10 | Nov 01, 2024 (157) |
| 244 | ClinVar | RCV000783621.9 | Nov 01, 2024 (157) |
| 245 | ClinVar | RCV000783622.10 | Nov 01, 2024 (157) |
| 246 | ClinVar | RCV000783623.10 | Nov 01, 2024 (157) |
| 247 | ClinVar | RCV000783624.10 | Nov 01, 2024 (157) |
| 248 | ClinVar | RCV000783625.10 | Nov 01, 2024 (157) |
| 249 | ClinVar | RCV000783626.10 | Nov 01, 2024 (157) |
| 250 | ClinVar | RCV000783656.9 | Nov 01, 2024 (157) |
| 251 | ClinVar | RCV000783667.11 | Nov 01, 2024 (157) |
| 252 | ClinVar | RCV000783674.11 | Nov 01, 2024 (157) |
| 253 | ClinVar | RCV000783675.9 | Nov 01, 2024 (157) |
| 254 | ClinVar | RCV000783676.10 | Nov 01, 2024 (157) |
| 255 | ClinVar | RCV000783677.10 | Nov 01, 2024 (157) |
| 256 | ClinVar | RCV000783678.10 | Nov 01, 2024 (157) |
| 257 | ClinVar | RCV000783679.10 | Nov 01, 2024 (157) |
| 258 | ClinVar | RCV000783680.10 | Nov 01, 2024 (157) |
| 259 | ClinVar | RCV000783717.10 | Nov 01, 2024 (157) |
| 260 | ClinVar | RCV000783718.10 | Nov 01, 2024 (157) |
| 261 | ClinVar | RCV000783749.10 | Nov 01, 2024 (157) |
| 262 | ClinVar | RCV000783750.10 | Nov 01, 2024 (157) |
| 263 | ClinVar | RCV000783751.10 | Nov 01, 2024 (157) |
| 264 | ClinVar | RCV000783752.10 | Nov 01, 2024 (157) |
| 265 | ClinVar | RCV000783877.10 | Nov 01, 2024 (157) |
| 266 | ClinVar | RCV000783878.10 | Nov 01, 2024 (157) |
| 267 | ClinVar | RCV000783879.10 | Nov 01, 2024 (157) |
| 268 | ClinVar | RCV000783880.10 | Nov 01, 2024 (157) |
| 269 | ClinVar | RCV000783881.10 | Nov 01, 2024 (157) |
| 270 | ClinVar | RCV000783882.10 | Nov 01, 2024 (157) |
| 271 | ClinVar | RCV000783883.10 | Nov 01, 2024 (157) |
| 272 | ClinVar | RCV000783937.10 | Nov 01, 2024 (157) |
| 273 | ClinVar | RCV000783938.10 | Nov 01, 2024 (157) |
| 274 | ClinVar | RCV000783939.10 | Nov 01, 2024 (157) |
| 275 | ClinVar | RCV000783940.10 | Nov 01, 2024 (157) |
| 276 | ClinVar | RCV000783941.10 | Nov 01, 2024 (157) |
| 277 | ClinVar | RCV000783942.10 | Nov 01, 2024 (157) |
| 278 | ClinVar | RCV000783943.10 | Nov 01, 2024 (157) |
| 279 | ClinVar | RCV000783944.10 | Nov 01, 2024 (157) |
| 280 | ClinVar | RCV000783945.10 | Nov 01, 2024 (157) |
| 281 | ClinVar | RCV000783946.10 | Nov 01, 2024 (157) |
| 282 | ClinVar | RCV000783947.10 | Nov 01, 2024 (157) |
| 283 | ClinVar | RCV000784182.10 | Nov 01, 2024 (157) |
| 284 | ClinVar | RCV000784183.10 | Nov 01, 2024 (157) |
| 285 | ClinVar | RCV000784184.10 | Nov 01, 2024 (157) |
| 286 | ClinVar | RCV000784185.10 | Nov 01, 2024 (157) |
| 287 | ClinVar | RCV000784186.10 | Nov 01, 2024 (157) |
| 288 | ClinVar | RCV000784187.10 | Nov 01, 2024 (157) |
| 289 | ClinVar | RCV000784188.10 | Nov 01, 2024 (157) |
| 290 | ClinVar | RCV000784189.10 | Nov 01, 2024 (157) |
| 291 | ClinVar | RCV000784190.10 | Nov 01, 2024 (157) |
| 292 | ClinVar | RCV000784191.10 | Nov 01, 2024 (157) |
| 293 | ClinVar | RCV000784192.10 | Nov 01, 2024 (157) |
| 294 | ClinVar | RCV000784193.10 | Nov 01, 2024 (157) |
| 295 | ClinVar | RCV000784382.10 | Nov 01, 2024 (157) |
| 296 | ClinVar | RCV000784383.10 | Nov 01, 2024 (157) |
| 297 | ClinVar | RCV000784384.10 | Nov 01, 2024 (157) |
| 298 | ClinVar | RCV000784406.10 | Nov 01, 2024 (157) |
| 299 | ClinVar | RCV000784410.10 | Nov 01, 2024 (157) |
| 300 | ClinVar | RCV000784411.10 | Nov 01, 2024 (157) |
| 301 | ClinVar | RCV000784412.11 | Nov 01, 2024 (157) |
| 302 | ClinVar | RCV000784413.10 | Nov 01, 2024 (157) |
| 303 | ClinVar | RCV000784414.9 | Nov 01, 2024 (157) |
| 304 | ClinVar | RCV000784415.10 | Nov 01, 2024 (157) |
| 305 | ClinVar | RCV000784416.10 | Nov 01, 2024 (157) |
| 306 | ClinVar | RCV000784539.10 | Nov 01, 2024 (157) |
| 307 | ClinVar | RCV000784540.10 | Nov 01, 2024 (157) |
| 308 | ClinVar | RCV000784688.10 | Nov 01, 2024 (157) |
| 309 | ClinVar | RCV000784689.10 | Nov 01, 2024 (157) |
| 310 | ClinVar | RCV000784690.10 | Nov 01, 2024 (157) |
| 311 | ClinVar | RCV000784691.10 | Nov 01, 2024 (157) |
| 312 | ClinVar | RCV000784753.11 | Nov 01, 2024 (157) |
| 313 | ClinVar | RCV000784754.10 | Nov 01, 2024 (157) |
| 314 | ClinVar | RCV000784755.10 | Nov 01, 2024 (157) |
| 315 | ClinVar | RCV000784845.10 | Nov 01, 2024 (157) |
| 316 | ClinVar | RCV000784846.10 | Nov 01, 2024 (157) |
| 317 | ClinVar | RCV000784847.11 | Nov 01, 2024 (157) |
| 318 | ClinVar | RCV000784848.10 | Nov 01, 2024 (157) |
| 319 | ClinVar | RCV002280093.8 | Nov 01, 2024 (157) |
Help
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) |
|---|---|
| rs52827375 | Sep 21, 2007 (128) |
| rs57081121 | May 23, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 60867, ss280732375, ss481125840, ss491629938, ss1397589437, ss2094864997 | NC_000010.9:96530399:G:A | NC_000010.11:94780652:G:A | (self) |
| 51055194, 28345744, 20116487, 241547, 30133194, 2114, 13212475, 26844628, 7106680, 28345744, 6294419, ss241975892, ss342304120, ss481148001, ss482136935, ss485358000, ss491001639, ss491438611, ss537302763, ss562142954, ss657184036, ss778927505, ss780889001, ss783124709, ss783575247, ss784081364, ss832383532, ss833022397, ss834389006, ss1067514944, ss1077215442, ss1338623759, ss1625196183, ss1668190216, ss1690011909, ss1751988277, ss1751988278, ss1917849821, ss1931170545, ss1946289779, ss1946289780, ss1959284949, ss1959284950, ss2095016474, ss2154590326, ss2627625774, ss2632748378, ss2632748379, ss2698843071, ss2710717536, ss2738420805, ss2748441501, ss2892128483, ss2984919987, ss2985568271, ss3006966078, ss3021264877, ss3021264878, ss3625584960, ss3626509910, ss3626509911, ss3630771628, ss3632960310, ss3633657954, ss3634417816, ss3634417817, ss3635350235, ss3636102018, ss3637100938, ss3637867228, ss3640125157, ss3640125158, ss3644542526, ss3644542527, ss3651623302, ss3651623303, ss3651623304, ss3653690722, ss3674378239, ss3744074658, ss3744369910, ss3744718787, ss3744718788, ss3748468425, ss3772219143, ss3772219144, ss3824540945, ss3874827648, ss3922955800, ss3984449113, ss3984639035, ss3984639036, ss3986493461, ss4017501498, ss6253826796, ss6307410284, ss6332060693, ss6349787542, ss8198969242, ss8237481901, ss8237481902, ss8315494517, ss8395323446, ss8512473896, ss8624255706, ss8649885990, ss8799403696, ss8847605632, ss8941172563, ss8979335326, ss8981454535, ss8981728086, ss8981728087, ss8982151828 | NC_000010.10:96540409:G:A | NC_000010.11:94780652:G:A | (self) |
| RCV000018397.36, RCV000018398.36, RCV000291495.14, RCV000782441.10, RCV000782449.10, RCV000782521.10, RCV000782522.10, RCV000782523.10, RCV000782524.11, RCV000782525.11, RCV000782526.10, RCV000782527.10, RCV000782528.10, RCV000782645.10, RCV000782646.10, RCV000782647.10, RCV000782648.10, RCV000782649.10, RCV000782693.10, RCV000782694.10, RCV000782707.11, RCV000782708.11, RCV000782709.10, RCV000782710.10, RCV000782711.9, RCV000782712.9, RCV000782713.10, RCV000782714.10, RCV000782715.10, RCV000782952.10, RCV000782953.10, RCV000782954.10, RCV000782955.10, RCV000782956.10, RCV000782957.10, RCV000782958.10, RCV000782959.10, RCV000783068.10, RCV000783084.10, RCV000783085.10, RCV000783086.10, RCV000783087.11, RCV000783088.10, RCV000783089.10, RCV000783147.10, RCV000783148.10, RCV000783149.10, RCV000783179.10, RCV000783180.10, RCV000783181.10, RCV000783302.10, RCV000783303.10, RCV000783304.10, RCV000783305.10, RCV000783306.10, RCV000783307.10, RCV000783308.10, RCV000783309.10, RCV000783449.10, RCV000783450.10, RCV000783451.10, RCV000783452.10, RCV000783453.10, RCV000783454.10, RCV000783503.10, RCV000783519.10, RCV000783520.10, RCV000783521.10, RCV000783579.10, RCV000783580.10, RCV000783581.10, RCV000783582.10, RCV000783583.10, RCV000783584.10, RCV000783614.10, RCV000783621.9, RCV000783622.10, RCV000783623.10, RCV000783624.10, RCV000783625.10, RCV000783626.10, RCV000783656.9, RCV000783667.11, RCV000783674.11, RCV000783675.9, RCV000783676.10, RCV000783677.10, RCV000783678.10, RCV000783679.10, RCV000783680.10, RCV000783717.10, RCV000783718.10, RCV000783749.10, RCV000783750.10, RCV000783751.10, RCV000783752.10, RCV000783877.10, RCV000783878.10, RCV000783879.10, RCV000783880.10, RCV000783881.10, RCV000783882.10, RCV000783883.10, RCV000783937.10, RCV000783938.10, RCV000783939.10, RCV000783940.10, RCV000783941.10, RCV000783942.10, RCV000783943.10, RCV000783944.10, RCV000783945.10, RCV000783946.10, RCV000783947.10, RCV000784182.10, RCV000784183.10, RCV000784184.10, RCV000784185.10, RCV000784186.10, RCV000784187.10, RCV000784188.10, RCV000784189.10, RCV000784190.10, RCV000784191.10, RCV000784192.10, RCV000784193.10, RCV000784382.10, RCV000784383.10, RCV000784384.10, RCV000784406.10, RCV000784410.10, RCV000784411.10, RCV000784412.11, RCV000784413.10, RCV000784414.9, RCV000784415.10, RCV000784416.10, RCV000784539.10, RCV000784540.10, RCV000784688.10, RCV000784689.10, RCV000784690.10, RCV000784691.10, RCV000784753.11, RCV000784754.10, RCV000784755.10, RCV000784845.10, RCV000784846.10, RCV000784847.11, RCV000784848.10, RCV002280093.8, 67090995, 387015098, 24836458, 32140966, 797193, 1138, 131577848, 78174137, 8579221040, ss275514384, ss2137544394, ss2177148579, ss3725179484, ss3771575724, ss3813834593, ss3968458457, ss4862628482, ss6114202028, ss6321979702, ss6322063340, ss6382289068, ss6440423756, ss6859879353, ss8236886079, ss8285088071, ss8314429327, ss8480548040, ss8579565060, ss8745187030, ss8811792434, ss8880086106, ss8982064788 | NC_000010.11:94780652:G:A | NC_000010.11:94780652:G:A | (self) |
| ss5586416, ss32475260, ss69088132, ss74817613, ss76867639, ss84155553, ss154334563, ss159511086, ss160735754, ss173903419, ss244302400 | NT_030059.13:47344873:G:A | NC_000010.11:94780652:G:A | (self) |
| ss6440423757 | NC_000010.11:94780652:G:T | NC_000010.11:94780652:G:T |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
165
citations for rs4986893
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 7969038 | Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese. | De Morais SM et al. | 1994 | Molecular pharmacology |
| 9093256 | High frequencies of CYP2C19 mutations and poor metabolism of proguanil in Vanuatu. | Kaneko A et al. | 1997 | Lancet (London, England) |
| 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 |
| 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 |
| 18936436 | Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. | Chang MH et al. | 2009 | American journal of epidemiology |
| 18974781 | Cataloging coding sequence variations in human genome databases. | Won HH et al. | 2008 | PloS one |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 20440227 | Clopidogrel pathway. | Sangkuhl K et al. | 2010 | Pharmacogenetics and genomics |
| 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 |
| 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) |
| 20921971 | Mapping genes that predict treatment outcome in admixed populations. | Baye TM et al. | 2010 | The pharmacogenomics journal |
| 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 |
| 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 |
| 21075428 | The cytochrome 2C19*2 and *3 alleles attenuate response to clopidogrel similarly in East Asian patients undergoing elective percutaneous coronary intervention. | Hwang SJ et al. | 2011 | Thrombosis research |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 21708280 | Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. | Srivastava K et al. | 2011 | Mutation research |
| 21716271 | Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy. | Scott SA et al. | 2011 | Clinical pharmacology and therapeutics |
| 21716274 | Genetic polymorphisms and the impact of a higher clopidogrel dose regimen on active metabolite exposure and antiplatelet response in healthy subjects. | Simon T 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 |
| 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.) |
| 21918509 | Pharmacogenomics: application to the management of cardiovascular disease. | Johnson JA et al. | 2011 | Clinical pharmacology and therapeutics |
| 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 |
| 22045970 | Effect of CYP2C19*2 and *3 loss-of-function alleles on platelet reactivity and adverse clinical events in East Asian acute myocardial infarction survivors treated with clopidogrel and aspirin. | Jeong YH et al. | 2011 | Circulation. Cardiovascular interventions |
| 22190063 | Predicting clopidogrel response using DNA samples linked to an electronic health record. | Delaney JT et al. | 2012 | Clinical pharmacology and therapeutics |
| 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 |
| 22374717 | Clarifying the importance of CYP2C19 and PON1 in the mechanism of clopidogrel bioactivation and in vivo antiplatelet response. | Gong IY et al. | 2012 | European heart journal |
| 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 |
| 22491019 | Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes. | Martis S et al. | 2013 | The pharmacogenomics journal |
| 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 |
| 22974728 | Besides CYP2C19, PON1 genetic variant influences post-clopidogrel platelet reactivity in Chinese patients. | Wu H 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 |
| 23001453 | Influence of CYP2C19 loss-of-function variants on the antiplatelet effects and cardiovascular events in clopidogrel-treated Chinese patients undergoing percutaneous coronary intervention. | Zou JJ et al. | 2013 | European journal of clinical pharmacology |
| 23130019 | Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations. | Roco A et al. | 2012 | Frontiers in genetics |
| 23133420 | Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin. | Suarez-Kurtz G et al. | 2012 | Frontiers in pharmacology |
| 23150151 | Effect of the CYP2C19 2 and 3 genotypes, ABCB1 C3435T and PON1 Q192R alleles on the pharmacodynamics and adverse clinical events of clopidogrel in Chinese people after percutaneous coronary intervention. | Tang XF et al. | 2013 | European journal of clinical pharmacology |
| 23226154 | Polymorphisms of Phase I and Phase II Enzymes and Breast Cancer Risk. | Justenhoven C et al. | 2012 | Frontiers in genetics |
| 23429358 | Relationship of CYP2C19*2 and CYP2C19*3 gene polymorphism with clopidogrel response variability and recurrent cardiovascular events in Chinese patients undergoing percutaneous coronary intervention. | Liu Y et al. | 2013 | Pharmacology |
| 23640828 | CYP2C19 polymorphisms and antiplatelet effects of clopidogrel in acute ischemic stroke in China. | Jia DM et al. | 2013 | Stroke |
| 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 |
| 23692149 | Efffect of the ABCC3 -211C/T polymorphism on clopidogrel responsiveness in patients with percutaneous coronary intervention. | Zou JJ et al. | 2013 | Clinical and experimental pharmacology & physiology |
| 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 |
| 23726091 | Genetic determinants of high on-treatment platelet reactivity in clopidogrel treated Chinese patients. | Zhang L et al. | 2013 | Thrombosis research |
| 23766564 | Pharmacogenetics of chronic pain and its treatment. | Světlík S et al. | 2013 | Mediators of inflammation |
| 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 |
| 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 |
| 24019397 | CYP2C19 poor metabolizer is associated with clinical outcome of clopidogrel therapy in acute myocardial infarction but not stable angina. | Kim HS et al. | 2013 | Circulation. Cardiovascular genetics |
| 24019752 | CYP2C19 polymorphisms in the Thai population and the clinical response to clopidogrel in patients with atherothrombotic-risk factors. | Sukasem C et al. | 2013 | Pharmacogenomics and personalized medicine |
| 24080325 | Cytochrome CYP2C19 polymorphism and risk of adverse clinical events in clopidogrel-treated patients: a meta-analysis based on 23,035 subjects. | Mao L et al. | 2013 | Archives of cardiovascular diseases |
| 24088578 | Impact of CYP2C19 polymorphism on platelet function tests and coagulation and inflammatory biomarkers in patients undergoing percutaneous coronary intervention. | Kaikita K et al. | 2014 | Journal of atherosclerosis and thrombosis |
| 24214141 | The effect of CYP2C19 genotype on the time course of platelet aggregation inhibition after clopidogrel administration. | Kim HS et al. | 2014 | Journal of clinical pharmacology |
| 24504666 | Positive clinical response to clopidogrel is independent of paraoxonase 1 Q192R and CYP2C19 genetic variants. | Martínez-Quintana E et al. | 2014 | Journal of clinical pharmacology |
| 24508947 | CES1A -816C as a genetic marker to predict greater platelet clopidogrel response in patients with percutaneous coronary intervention. | Zou JJ et al. | 2014 | Journal of cardiovascular pharmacology |
| 24535487 | The effects of CES1A2 A(-816)C and CYP2C19 loss-of-function polymorphisms on clopidogrel response variability among Chinese patients with coronary heart disease. | Xie C et al. | 2014 | Pharmacogenetics and genomics |
| 24608794 | CYP2C19 polymorphisms and coronary heart disease risk factors synergistically impact clopidogrel response variety after percutaneous coronary intervention. | Liu T et al. | 2014 | Coronary artery disease |
| 24821368 | Impact of CYP2C19 polymorphism on clinical outcome following coronary stenting is more important in non-diabetic than diabetic patients. | Mizobe M et al. | 2014 | Thrombosis research |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25008027 | The effect of CYP2C19 gene polymorphisms on the pharmacokinetics and pharmacodynamics of prasugrel 5-mg, prasugrel 10-mg and clopidogrel 75-mg in patients with coronary artery disease. | Gurbel PA et al. | 2014 | Thrombosis and haemostasis |
| 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 |
| 25329996 | Effects of cytochrome P450 2C19 and paraoxonase 1 polymorphisms on antiplatelet response to clopidogrel therapy in patients with coronary artery disease. | Tresukosol D et al. | 2014 | PloS one |
| 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 |
| 25897256 | Personalized antiplatelet and anticoagulation therapy: applications and significance of pharmacogenomics. | Beitelshees AL et al. | 2015 | Pharmacogenomics and personalized medicine |
| 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 |
| 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 |
| 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 |
| 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 |
| 26988277 | Genetic Association of Curative and Adverse Reactions to Tyrosine Kinase Inhibitors in Chinese advanced Non-Small Cell Lung Cancer patients. | Ruan Y et al. | 2016 | Scientific reports |
| 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 |
| 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 |
| 27233804 | Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China. | Jin T et al. | 2016 | BMC genetics |
| 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 |
| 27450232 | Impact of genetic polymorphisms related to clopidogrel or acetylsalicylic acid pharmacology on clinical outcome in Chinese patients with symptomatic extracranial or intracranial stenosis. | Zhao Z et al. | 2016 | European journal of clinical pharmacology |
| 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 |
| 27798644 | Detection of CYP2C19 Genetic Variants in Malaysian Orang Asli from Massively Parallel Sequencing Data. | Ang GY et al. | 2016 | PloS one |
| 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 |
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Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
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.