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.
rs28399504
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr10:94762706 (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
- A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.003115 (894/286966, ALFA)G=0.002467 (653/264690, TOPMED)G=0.00009 (7/77436, 38KJPN) (+ 13 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYP2C19 : Initiator Codon Variant
- Publications
- 39 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 | 286966 | A=0.996885 | G=0.003115 | 0.993839 | 7e-05 | 0.006091 | 29 |
| European | Sub | 244210 | A=0.996732 | G=0.003268 | 0.993538 | 0.000074 | 0.006388 | 25 |
| African | Sub | 13530 | A=0.99941 | G=0.00059 | 0.998817 | 0.0 | 0.001183 | 0 |
| African Others | Sub | 504 | A=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 13026 | A=0.99939 | G=0.00061 | 0.998772 | 0.0 | 0.001228 | 0 |
| Asian | Sub | 3910 | A=0.9990 | G=0.0010 | 0.997954 | 0.0 | 0.002046 | 0 |
| East Asian | Sub | 3134 | A=0.9994 | G=0.0006 | 0.998724 | 0.0 | 0.001276 | 0 |
| Other Asian | Sub | 776 | A=0.997 | G=0.003 | 0.994845 | 0.0 | 0.005155 | 0 |
| Latin American 1 | Sub | 1410 | A=0.9965 | G=0.0035 | 0.992908 | 0.0 | 0.007092 | 0 |
| Latin American 2 | Sub | 3104 | A=0.9974 | G=0.0026 | 0.994845 | 0.0 | 0.005155 | 0 |
| South Asian | Sub | 5214 | A=0.9996 | G=0.0004 | 0.999233 | 0.0 | 0.000767 | 0 |
| Other | Sub | 15588 | A=0.99557 | G=0.00443 | 0.991275 | 0.000128 | 0.008596 | 3 |
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 | 286966 | A=0.996885 | G=0.003115 |
| Allele Frequency Aggregator | European | Sub | 244210 | A=0.996732 | G=0.003268 |
| Allele Frequency Aggregator | Other | Sub | 15588 | A=0.99557 | G=0.00443 |
| Allele Frequency Aggregator | African | Sub | 13530 | A=0.99941 | G=0.00059 |
| Allele Frequency Aggregator | South Asian | Sub | 5214 | A=0.9996 | G=0.0004 |
| Allele Frequency Aggregator | Asian | Sub | 3910 | A=0.9990 | G=0.0010 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 3104 | A=0.9974 | G=0.0026 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1410 | A=0.9965 | G=0.0035 |
| TopMed | Global | Study-wide | 264690 | A=0.997533 | G=0.002467 |
| 38KJPN | JAPANESE | Study-wide | 77436 | A=0.99991 | G=0.00009 |
| Korean Genome Project 4K | KOREAN | Study-wide | 7234 | A=0.9996 | G=0.0004 |
| 1000Genomes_30X | Global | Study-wide | 6404 | A=0.9992 | G=0.0008 |
| 1000Genomes_30X | African | Sub | 1786 | A=1.0000 | G=0.0000 |
| 1000Genomes_30X | Europe | Sub | 1266 | A=0.9992 | G=0.0008 |
| 1000Genomes_30X | South Asian | Sub | 1202 | A=1.0000 | G=0.0000 |
| 1000Genomes_30X | East Asian | Sub | 1170 | A=0.9991 | G=0.0009 |
| 1000Genomes_30X | American | Sub | 980 | A=0.997 | G=0.003 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.9992 | G=0.0008 |
| 1000Genomes | African | Sub | 1322 | A=1.0000 | G=0.0000 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.9990 | G=0.0010 |
| 1000Genomes | Europe | Sub | 1006 | A=0.9990 | G=0.0010 |
| 1000Genomes | South Asian | Sub | 978 | A=1.000 | G=0.000 |
| 1000Genomes | American | Sub | 694 | A=0.997 | G=0.003 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.9980 | G=0.0020 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.9984 | G=0.0016 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.9978 | G=0.0022 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | A=0.9993 | G=0.0007 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.9995 | G=0.0005 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | A=1.0000 | G=0.0000 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | A=1.000 | G=0.000 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | A=1.000 | G=0.000 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | A=1.000 | G=0.000 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | A=1.000 | G=0.000 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | A=1.00 | G=0.00 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=1.00 | G=0.00 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.996 | G=0.004 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.998 | G=0.002 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.998 | G=0.002 |
| HapMap | Global | Study-wide | 82 | A=1.00 | G=0.00 |
| HapMap | Asian | Sub | 82 | A=1.00 | G=0.00 |
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.94762706A>G |
| GRCh38.p14 chr 10 | NC_000010.11:g.94762706A>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.96522463A>G |
| GRCh37.p13 chr 10 | NC_000010.10:g.96522463A>T |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.5026A>G |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.5026A>T |
| LOC110599570 genomic region | NG_055436.1:g.2066A>G |
| LOC110599570 genomic region | NG_055436.1:g.2066A>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.1A>G | M [ATG] > V [GTG] | Initiator Codon Variant |
| cytochrome P450 2C19 | NP_000760.1:p.Met1Val | M (Met) > V (Val) | Missense Variant |
| CYP2C19 transcript | NM_000769.4:c.1A>T | M [ATG] > L [TTG] | Initiator Codon Variant |
| cytochrome P450 2C19 | NP_000760.1:p.Met1Leu | M (Met) > L (Leu) | 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: G (allele ID:
31939
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000018399.36 | Mephenytoin, poor metabolism of | Drug-Response |
| RCV000383294.13 | not provided | Likely-Benign,Other |
| RCV000782432.8 | CYP2C19: no function | Drug-Response |
| RCV000782442.9 | Clopidogrel response | Drug-Response |
| RCV000782443.10 | Clopidogrel response | Drug-Response |
| RCV000782450.9 | Clopidogrel response | Drug-Response |
| RCV000782451.10 | Clopidogrel response | Drug-Response |
| RCV000782454.10 | Clopidogrel response | Drug-Response |
| RCV000782454.10 | Clopidogrel response | Drug-Response |
| RCV000782455.9 | Clopidogrel response | Drug-Response |
| RCV000782456.9 | Clopidogrel response | Drug-Response |
| RCV000782457.9 | Clopidogrel response | Drug-Response |
| RCV000782458.9 | Clopidogrel response | Drug-Response |
| RCV000782459.11 | Clopidogrel response | Drug-Response |
| RCV000782460.10 | Clopidogrel response | Drug-Response |
| RCV000782461.10 | Clopidogrel response | Drug-Response |
| RCV000782490.9 | Citalopram response | Drug-Response |
| RCV000782491.9 | Escitalopram response | Drug-Response |
| RCV000782492.10 | Citalopram response | Drug-Response |
| RCV000782493.10 | Escitalopram response | Drug-Response |
| RCV000782529.10 | Escitalopram response | Drug-Response |
| RCV000782530.9 | Citalopram response | Drug-Response |
| RCV000782531.9 | Escitalopram response | Drug-Response |
| RCV000782532.9 | Citalopram response | Drug-Response |
| RCV000782533.9 | Escitalopram response | Drug-Response |
| RCV000782534.10 | Citalopram response | Drug-Response |
| RCV000782535.10 | Escitalopram response | Drug-Response |
| RCV000782536.10 | Citalopram response | Drug-Response |
| RCV000782537.10 | Escitalopram response | Drug-Response |
| RCV000782650.9 | Escitalopram response | Drug-Response |
| RCV000782651.9 | Citalopram response | Drug-Response |
| RCV000782652.9 | Escitalopram response | Drug-Response |
| RCV000782653.9 | Citalopram response | Drug-Response |
| RCV000782654.9 | Escitalopram response | Drug-Response |
| RCV000782655.9 | Citalopram response | Drug-Response |
| RCV000782656.9 | Escitalopram response | Drug-Response |
| RCV000782657.9 | Citalopram response | Drug-Response |
| RCV000782658.10 | Escitalopram response | Drug-Response |
| RCV000782659.10 | Citalopram response | Drug-Response |
| RCV000782660.10 | Escitalopram response | Drug-Response |
| RCV000782661.10 | Citalopram response | Drug-Response |
| RCV000782662.10 | Escitalopram response | Drug-Response |
| RCV000782663.10 | Citalopram response | Drug-Response |
| RCV000782664.10 | Escitalopram response | Drug-Response |
| RCV000782697.9 | Citalopram 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 |
| RCV000782716.9 | Citalopram response | Drug-Response |
| RCV000782717.9 | Escitalopram response | Drug-Response |
| RCV000782718.9 | Citalopram response | Drug-Response |
| RCV000782719.9 | Escitalopram response | Drug-Response |
| RCV000782720.9 | Citalopram response | Drug-Response |
| RCV000782721.9 | Escitalopram response | Drug-Response |
| RCV000782722.10 | Citalopram response | Drug-Response |
| RCV000782723.10 | Escitalopram response | Drug-Response |
| RCV000782724.10 | Citalopram response | Drug-Response |
| RCV000782724.10 | Citalopram response | Drug-Response |
| RCV000782725.9 | Escitalopram response | Drug-Response |
| RCV000782726.10 | Citalopram response | Drug-Response |
| RCV000782727.10 | Escitalopram response | Drug-Response |
| RCV000782728.10 | Citalopram response | Drug-Response |
| RCV000782729.10 | Escitalopram response | Drug-Response |
| RCV000782730.10 | Citalopram response | Drug-Response |
| RCV000782731.10 | Escitalopram response | Drug-Response |
| RCV000782732.11 | Citalopram response | Drug-Response |
| RCV000782733.10 | Escitalopram response | Drug-Response |
| RCV000782980.9 | Citalopram response | Drug-Response |
| RCV000782981.9 | Escitalopram response | Drug-Response |
| RCV000782982.9 | Citalopram response | Drug-Response |
| RCV000782983.9 | Escitalopram response | Drug-Response |
| RCV000782984.9 | Citalopram response | Drug-Response |
| RCV000782985.9 | Escitalopram response | Drug-Response |
| RCV000782986.9 | Citalopram response | Drug-Response |
| RCV000782987.9 | Escitalopram response | Drug-Response |
| RCV000782988.9 | Citalopram response | Drug-Response |
| RCV000782989.9 | Escitalopram response | Drug-Response |
| RCV000782990.9 | Citalopram response | Drug-Response |
| RCV000782991.9 | Escitalopram response | Drug-Response |
| RCV000782992.10 | Citalopram response | Drug-Response |
| RCV000782993.10 | Escitalopram response | Drug-Response |
| RCV000782994.10 | Citalopram response | Drug-Response |
| RCV000782995.10 | Escitalopram response | Drug-Response |
| RCV000782996.10 | Citalopram response | Drug-Response |
| RCV000782997.10 | Escitalopram response | Drug-Response |
| RCV000782998.10 | Citalopram response | Drug-Response |
| RCV000782999.10 | Escitalopram response | Drug-Response |
| RCV000783000.10 | Citalopram response | Drug-Response |
| RCV000783070.9 | Sertraline response | Drug-Response |
| RCV000783071.10 | Sertraline response | Drug-Response |
| RCV000783090.10 | Sertraline response | Drug-Response |
| RCV000783091.10 | Sertraline response | Drug-Response |
| RCV000783092.10 | Sertraline response | Drug-Response |
| RCV000783093.10 | Sertraline response | Drug-Response |
| RCV000783150.9 | Sertraline response | Drug-Response |
| RCV000783151.9 | Sertraline response | Drug-Response |
| RCV000783152.9 | Sertraline response | Drug-Response |
| RCV000783153.9 | Sertraline response | Drug-Response |
| RCV000783154.9 | Sertraline response | Drug-Response |
| RCV000783171.10 | Sertraline response | Drug-Response |
| RCV000783183.10 | Sertraline response | Drug-Response |
| RCV000783184.9 | Sertraline response | Drug-Response |
| RCV000783185.9 | Sertraline response | Drug-Response |
| RCV000783186.9 | Sertraline response | Drug-Response |
| RCV000783187.10 | Sertraline response | Drug-Response |
| RCV000783187.10 | Sertraline response | Drug-Response |
| RCV000783188.10 | Sertraline response | Drug-Response |
| RCV000783189.10 | Sertraline response | Drug-Response |
| RCV000783190.10 | Sertraline response | Drug-Response |
| RCV000783191.10 | Sertraline response | Drug-Response |
| RCV000783318.9 | Sertraline response | Drug-Response |
| RCV000783319.9 | Sertraline response | Drug-Response |
| RCV000783320.9 | Sertraline response | Drug-Response |
| RCV000783321.9 | Sertraline response | Drug-Response |
| RCV000783322.9 | Sertraline response | Drug-Response |
| RCV000783323.9 | Sertraline response | Drug-Response |
| RCV000783324.9 | Sertraline response | Drug-Response |
| RCV000783325.10 | Sertraline response | Drug-Response |
| RCV000783326.10 | Sertraline response | Drug-Response |
| RCV000783466.9 | Voriconazole response | Drug-Response |
| RCV000783467.9 | Voriconazole response | Drug-Response |
| RCV000783468.9 | Voriconazole response | Drug-Response |
| RCV000783469.9 | Voriconazole response | Drug-Response |
| RCV000783470.9 | Voriconazole response | Drug-Response |
| RCV000783471.9 | Voriconazole response | Drug-Response |
| RCV000783472.10 | Voriconazole response | Drug-Response |
| RCV000783473.10 | Voriconazole response | Drug-Response |
| RCV000783505.9 | Voriconazole response | Drug-Response |
| RCV000783522.9 | Voriconazole response | Drug-Response |
| RCV000783523.10 | Voriconazole response | Drug-Response |
| RCV000783524.10 | Voriconazole response | Drug-Response |
| RCV000783525.10 | Voriconazole response | Drug-Response |
| RCV000783526.10 | Voriconazole response | Drug-Response |
| RCV000783527.10 | Voriconazole response | Drug-Response |
| RCV000783528.10 | Voriconazole response | Drug-Response |
| RCV000783585.9 | Voriconazole response | Drug-Response |
| RCV000783586.9 | Voriconazole response | Drug-Response |
| RCV000783587.10 | Voriconazole response | Drug-Response |
| RCV000783588.10 | Voriconazole response | Drug-Response |
| RCV000783616.9 | Voriconazole response | Drug-Response |
| RCV000783617.10 | Voriconazole response | Drug-Response |
| RCV000783621.9 | Voriconazole response | Drug-Response |
| RCV000783622.10 | Voriconazole response | Drug-Response |
| RCV000783628.9 | Voriconazole response | Drug-Response |
| RCV000783629.9 | Voriconazole response | Drug-Response |
| RCV000783630.10 | Voriconazole response | Drug-Response |
| RCV000783631.11 | Voriconazole response | Drug-Response |
| RCV000783632.10 | Voriconazole response | Drug-Response |
| RCV000783633.10 | Voriconazole response | Drug-Response |
| RCV000783634.10 | Voriconazole response | Drug-Response |
| RCV000783635.10 | Voriconazole response | Drug-Response |
| RCV000783649.11 | CYP2C19: no function | Drug-Response |
| RCV000783668.10 | Clopidogrel response | Drug-Response |
| RCV000783669.10 | Clopidogrel response | Drug-Response |
| RCV000783675.9 | Clopidogrel response | Drug-Response |
| RCV000783676.10 | Clopidogrel response | Drug-Response |
| RCV000783681.10 | Clopidogrel response | Drug-Response |
| RCV000783682.10 | Clopidogrel response | Drug-Response |
| RCV000783683.10 | Clopidogrel response | Drug-Response |
| RCV000783753.9 | Citalopram response | Drug-Response |
| RCV000783754.9 | Escitalopram response | Drug-Response |
| RCV000783755.9 | Citalopram response | Drug-Response |
| RCV000783756.9 | Escitalopram response | Drug-Response |
| RCV000783757.9 | Citalopram response | Drug-Response |
| RCV000783758.9 | Escitalopram response | Drug-Response |
| RCV000783759.10 | Citalopram response | Drug-Response |
| RCV000783760.10 | Escitalopram response | Drug-Response |
| RCV000783761.10 | Citalopram response | Drug-Response |
| RCV000783762.10 | Escitalopram response | Drug-Response |
| RCV000783763.10 | Citalopram response | Drug-Response |
| RCV000783764.10 | Escitalopram response | Drug-Response |
| RCV000783765.10 | Citalopram response | Drug-Response |
| RCV000783766.10 | Escitalopram response | Drug-Response |
| RCV000783767.10 | Citalopram response | Drug-Response |
| RCV000783884.9 | Citalopram response | Drug-Response |
| RCV000783885.9 | Escitalopram response | Drug-Response |
| RCV000783886.9 | Citalopram response | Drug-Response |
| RCV000783887.9 | Escitalopram response | Drug-Response |
| RCV000783888.10 | Citalopram response | Drug-Response |
| RCV000783889.10 | Escitalopram response | Drug-Response |
| RCV000783890.10 | Citalopram response | Drug-Response |
| RCV000783891.10 | Escitalopram response | Drug-Response |
| RCV000783892.10 | Citalopram response | Drug-Response |
| RCV000783925.9 | Escitalopram response | Drug-Response |
| RCV000783926.10 | Citalopram response | Drug-Response |
| RCV000783927.10 | Escitalopram response | Drug-Response |
| RCV000783950.10 | Escitalopram response | Drug-Response |
| RCV000783950.10 | Escitalopram response | Drug-Response |
| RCV000783951.9 | Citalopram response | Drug-Response |
| RCV000783952.9 | Escitalopram response | Drug-Response |
| RCV000783953.9 | Citalopram response | Drug-Response |
| RCV000783954.9 | Escitalopram response | Drug-Response |
| RCV000783955.9 | Citalopram response | Drug-Response |
| RCV000783956.9 | Escitalopram response | Drug-Response |
| RCV000783957.9 | Citalopram response | Drug-Response |
| RCV000783958.11 | Escitalopram response | Drug-Response |
| RCV000783959.10 | Citalopram response | Drug-Response |
| RCV000783960.10 | Escitalopram response | Drug-Response |
| RCV000783961.10 | Citalopram response | Drug-Response |
| RCV000783962.10 | Escitalopram response | Drug-Response |
| RCV000783963.10 | Citalopram response | Drug-Response |
| RCV000783964.10 | Escitalopram response | Drug-Response |
| RCV000783965.10 | Citalopram response | Drug-Response |
| RCV000784214.9 | Escitalopram response | Drug-Response |
| RCV000784215.9 | Citalopram response | Drug-Response |
| RCV000784216.9 | Escitalopram response | Drug-Response |
| RCV000784217.9 | Citalopram response | Drug-Response |
| RCV000784218.9 | Escitalopram response | Drug-Response |
| RCV000784219.9 | Citalopram response | Drug-Response |
| RCV000784220.9 | Escitalopram response | Drug-Response |
| RCV000784221.9 | Citalopram response | Drug-Response |
| RCV000784222.10 | Escitalopram response | Drug-Response |
| RCV000784223.10 | Citalopram response | Drug-Response |
| RCV000784224.10 | Escitalopram response | Drug-Response |
| RCV000784225.10 | Citalopram response | Drug-Response |
| RCV000784226.10 | Escitalopram response | Drug-Response |
| RCV000784227.10 | Citalopram response | Drug-Response |
| RCV000784228.10 | Escitalopram response | Drug-Response |
| RCV000784229.10 | Citalopram response | Drug-Response |
| RCV000784230.10 | Escitalopram response | Drug-Response |
| RCV000784231.10 | Citalopram response | Drug-Response |
| RCV000784232.10 | Escitalopram response | Drug-Response |
| RCV000784319.9 | Sertraline response | Drug-Response |
| RCV000784320.9 | Sertraline response | Drug-Response |
| RCV000784321.9 | Sertraline response | Drug-Response |
| RCV000784322.10 | Sertraline response | Drug-Response |
| RCV000784323.9 | Sertraline response | Drug-Response |
| RCV000784324.9 | Sertraline response | Drug-Response |
| RCV000784325.10 | Sertraline response | Drug-Response |
| RCV000784326.10 | Sertraline response | Drug-Response |
| RCV000784385.9 | Sertraline response | Drug-Response |
| RCV000784386.10 | Sertraline response | Drug-Response |
| RCV000784387.10 | Sertraline response | Drug-Response |
| RCV000784388.10 | Sertraline response | Drug-Response |
| RCV000784389.10 | Sertraline response | Drug-Response |
| RCV000784390.10 | Sertraline response | Drug-Response |
| RCV000784391.10 | Sertraline response | Drug-Response |
| RCV000784408.9 | Sertraline response | Drug-Response |
| RCV000784414.9 | Sertraline response | Drug-Response |
| RCV000784415.10 | Sertraline response | Drug-Response |
| RCV000784417.9 | Sertraline response | Drug-Response |
| RCV000784418.9 | Sertraline response | Drug-Response |
| RCV000784419.9 | Sertraline response | Drug-Response |
| RCV000784420.9 | Sertraline response | Drug-Response |
| RCV000784421.10 | Sertraline response | Drug-Response |
| RCV000784422.10 | Sertraline response | Drug-Response |
| RCV000784423.10 | Sertraline response | Drug-Response |
| RCV000784424.11 | Sertraline response | Drug-Response |
| RCV000784554.9 | Sertraline response | Drug-Response |
| RCV000784555.9 | Sertraline response | Drug-Response |
| RCV000784556.9 | Sertraline response | Drug-Response |
| RCV000784557.10 | Sertraline response | Drug-Response |
| RCV000784558.10 | Sertraline response | Drug-Response |
| RCV000784559.10 | Sertraline response | Drug-Response |
| RCV000784560.10 | Sertraline response | Drug-Response |
| RCV000784561.10 | Sertraline response | Drug-Response |
| RCV000784562.10 | Sertraline response | Drug-Response |
| RCV000784563.10 | Sertraline response | Drug-Response |
| RCV000784564.10 | Sertraline response | Drug-Response |
| RCV000784701.9 | Voriconazole response | Drug-Response |
| RCV000784702.9 | Voriconazole response | Drug-Response |
| RCV000784703.9 | Voriconazole response | Drug-Response |
| RCV000784704.9 | Voriconazole response | Drug-Response |
| RCV000784705.10 | Voriconazole response | Drug-Response |
| RCV000784706.10 | Voriconazole response | Drug-Response |
| RCV000784707.10 | Voriconazole response | Drug-Response |
| RCV000784708.10 | Voriconazole response | Drug-Response |
| RCV000784709.10 | Voriconazole response | Drug-Response |
| RCV000784710.10 | Voriconazole response | Drug-Response |
| RCV000784711.10 | Voriconazole response | Drug-Response |
| RCV000784712.10 | Voriconazole response | Drug-Response |
| RCV000784737.10 | Voriconazole response | Drug-Response |
| RCV000784756.9 | Voriconazole response | Drug-Response |
| RCV000784757.9 | Voriconazole response | Drug-Response |
| RCV000784758.9 | Voriconazole response | Drug-Response |
| RCV000784759.10 | Voriconazole response | Drug-Response |
| RCV000784760.9 | Voriconazole response | Drug-Response |
| RCV000784805.9 | Voriconazole response | Drug-Response |
| RCV000784806.9 | Voriconazole response | Drug-Response |
| RCV000784807.9 | Voriconazole response | Drug-Response |
| RCV000784808.9 | Voriconazole response | Drug-Response |
| RCV000784809.10 | Voriconazole response | Drug-Response |
| RCV000784810.10 | Voriconazole response | Drug-Response |
| RCV000784811.10 | Voriconazole response | Drug-Response |
| RCV000784812.10 | Voriconazole response | Drug-Response |
| RCV000784849.9 | Voriconazole response | Drug-Response |
| RCV000784850.10 | Voriconazole response | Drug-Response |
| RCV000784851.10 | Voriconazole response | Drug-Response |
| RCV000784851.10 | Voriconazole response | Drug-Response |
| RCV000784852.9 | Voriconazole response | Drug-Response |
| RCV000784853.9 | Voriconazole response | Drug-Response |
| RCV000784854.9 | Voriconazole response | Drug-Response |
| RCV000784855.9 | Voriconazole response | Drug-Response |
| RCV000784856.10 | Voriconazole response | Drug-Response |
| RCV000784857.10 | Voriconazole response | 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 | A= | G | T |
|---|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.94762706= | NC_000010.11:g.94762706A>G | NC_000010.11:g.94762706A>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.96522463= | NC_000010.10:g.96522463A>G | NC_000010.10:g.96522463A>T |
| CYP2C19 RefSeqGene (LRG_584) | NG_008384.3:g.5026= | NG_008384.3:g.5026A>G | NG_008384.3:g.5026A>T |
| CYP2C19 transcript | NM_000769.4:c.1= | NM_000769.4:c.1A>G | NM_000769.4:c.1A>T |
| CYP2C19 transcript | NM_000769.3:c.1= | NM_000769.3:c.1A>G | NM_000769.3:c.1A>T |
| CYP2C19 transcript | NM_000769.2:c.1= | NM_000769.2:c.1A>G | NM_000769.2:c.1A>T |
| CYP2C19 transcript | NM_000769.1:c.1= | NM_000769.1:c.1A>G | NM_000769.1:c.1A>T |
| LOC110599570 genomic region | NG_055436.1:g.2066= | NG_055436.1:g.2066A>G | NG_055436.1:g.2066A>T |
| cytochrome P450 2C19 | NP_000760.1:p.Met1= | NP_000760.1:p.Met1Val | NP_000760.1:p.Met1Leu |
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#.
101 SubSNP,
22 Frequency,
291 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | BIOVENTURES | ss32475248 | May 24, 2005 (125) |
| 2 | ILLUMINA | ss75259526 | Dec 07, 2007 (129) |
| 3 | SNP500CANCER | ss105439386 | Feb 04, 2009 (130) |
| 4 | KRIBB_YJKIM | ss119899974 | Dec 01, 2009 (131) |
| 5 | ILLUMINA | ss154239850 | Dec 01, 2009 (131) |
| 6 | ILLUMINA | ss159416271 | Dec 01, 2009 (131) |
| 7 | ILLUMINA | ss160587289 | Dec 01, 2009 (131) |
| 8 | ILLUMINA | ss173494033 | Jul 04, 2010 (132) |
| 9 | OMICIA | ss244238826 | May 27, 2010 (132) |
| 10 | ILLUMINA | ss244292341 | Jul 04, 2010 (132) |
| 11 | OMIM-CURATED-RECORDS | ss275514385 | Nov 22, 2010 (133) |
| 12 | NHLBI-ESP | ss342304089 | May 09, 2011 (134) |
| 13 | 1000GENOMES | ss461821354 | Sep 17, 2011 (135) |
| 14 | ILLUMINA | ss480688673 | May 04, 2012 (137) |
| 15 | ILLUMINA | ss480704165 | May 04, 2012 (137) |
| 16 | ILLUMINA | ss481563471 | Sep 08, 2015 (146) |
| 17 | ILLUMINA | ss485139169 | May 04, 2012 (137) |
| 18 | 1000GENOMES | ss491001620 | May 04, 2012 (137) |
| 19 | EXOME_CHIP | ss491438594 | May 04, 2012 (137) |
| 20 | CLINSEQ_SNP | ss491629922 | May 04, 2012 (137) |
| 21 | ILLUMINA | ss537136132 | Sep 08, 2015 (146) |
| 22 | ILLUMINA | ss778509014 | Sep 08, 2015 (146) |
| 23 | ILLUMINA | ss783015874 | Sep 08, 2015 (146) |
| 24 | ILLUMINA | ss783976002 | Sep 08, 2015 (146) |
| 25 | ILLUMINA | ss832273316 | Sep 08, 2015 (146) |
| 26 | ILLUMINA | ss832927931 | Jul 13, 2019 (153) |
| 27 | ILLUMINA | ss833965237 | Sep 08, 2015 (146) |
| 28 | EVA-GONL | ss987804344 | Aug 21, 2014 (142) |
| 29 | 1000GENOMES | ss1338623028 | Aug 21, 2014 (142) |
| 30 | HAMMER_LAB | ss1397589434 | Sep 08, 2015 (146) |
| 31 | EVA_DECODE | ss1597477667 | Apr 01, 2015 (144) |
| 32 | EVA_UK10K_ALSPAC | ss1625195778 | Apr 01, 2015 (144) |
| 33 | EVA_UK10K_TWINSUK | ss1668189811 | Apr 01, 2015 (144) |
| 34 | EVA_EXAC | ss1690011692 | Apr 01, 2015 (144) |
| 35 | EVA_EXAC | ss1690011693 | Apr 01, 2015 (144) |
| 36 | EVA_MGP | ss1711265762 | Apr 01, 2015 (144) |
| 37 | ILLUMINA | ss1751988261 | Sep 08, 2015 (146) |
| 38 | ILLUMINA | ss1959284921 | Feb 12, 2016 (147) |
| 39 | HUMAN_LONGEVITY | ss2177147158 | Dec 20, 2016 (150) |
| 40 | ILLUMINA | ss2632748359 | Nov 08, 2017 (151) |
| 41 | ILLUMINA | ss2632748360 | Nov 08, 2017 (151) |
| 42 | GNOMAD | ss2738420536 | Nov 08, 2017 (151) |
| 43 | GNOMAD | ss2748441407 | Nov 08, 2017 (151) |
| 44 | GNOMAD | ss2892126710 | Nov 08, 2017 (151) |
| 45 | AFFY | ss2984919974 | Nov 08, 2017 (151) |
| 46 | AFFY | ss2985568267 | Nov 08, 2017 (151) |
| 47 | SWEGEN | ss3006965817 | Nov 08, 2017 (151) |
| 48 | ILLUMINA | ss3021264854 | Nov 08, 2017 (151) |
| 49 | ILLUMINA | ss3626509880 | Oct 12, 2018 (152) |
| 50 | ILLUMINA | ss3630771616 | Oct 12, 2018 (152) |
| 51 | ILLUMINA | ss3632960298 | Oct 12, 2018 (152) |
| 52 | ILLUMINA | ss3633657942 | Oct 12, 2018 (152) |
| 53 | ILLUMINA | ss3634417800 | Oct 12, 2018 (152) |
| 54 | ILLUMINA | ss3635350223 | Oct 12, 2018 (152) |
| 55 | ILLUMINA | ss3636101990 | Oct 12, 2018 (152) |
| 56 | ILLUMINA | ss3637100926 | Oct 12, 2018 (152) |
| 57 | ILLUMINA | ss3637867211 | Oct 12, 2018 (152) |
| 58 | ILLUMINA | ss3640125141 | Oct 12, 2018 (152) |
| 59 | ILLUMINA | ss3642869286 | Oct 12, 2018 (152) |
| 60 | ILLUMINA | ss3651623278 | Oct 12, 2018 (152) |
| 61 | ILLUMINA | ss3653690708 | Oct 12, 2018 (152) |
| 62 | EGCUT_WGS | ss3674377986 | Jul 13, 2019 (153) |
| 63 | EVA_DECODE | ss3690461681 | Jul 13, 2019 (153) |
| 64 | ILLUMINA | ss3725179464 | Jul 13, 2019 (153) |
| 65 | ACPOP | ss3737585476 | Jul 13, 2019 (153) |
| 66 | ILLUMINA | ss3744718771 | Jul 13, 2019 (153) |
| 67 | EVA | ss3748468202 | Jul 13, 2019 (153) |
| 68 | ILLUMINA | ss3772219127 | Jul 13, 2019 (153) |
| 69 | EVA | ss3824540886 | Apr 26, 2020 (154) |
| 70 | EVA | ss3825780767 | Apr 26, 2020 (154) |
| 71 | KRGDB | ss3922955459 | Apr 26, 2020 (154) |
| 72 | KOGIC | ss3968458163 | Apr 26, 2020 (154) |
| 73 | TOPMED | ss4862622856 | Apr 26, 2021 (155) |
| 74 | TOMMO_GENOMICS | ss6114200584 | Nov 01, 2024 (157) |
| 75 | EVA | ss6253826069 | Nov 01, 2024 (157) |
| 76 | EVA | ss6307409888 | Nov 01, 2024 (157) |
| 77 | EVA | ss6322063339 | Nov 01, 2024 (157) |
| 78 | EVA | ss6322395596 | Nov 01, 2024 (157) |
| 79 | KOGIC | ss6382288674 | Nov 01, 2024 (157) |
| 80 | GNOMAD | ss6440422555 | Nov 01, 2024 (157) |
| 81 | GNOMAD | ss6440422556 | Nov 01, 2024 (157) |
| 82 | GNOMAD | ss6859874570 | Nov 01, 2024 (157) |
| 83 | GNOMAD | ss6859874571 | Nov 01, 2024 (157) |
| 84 | EVA | ss8236886073 | Nov 01, 2024 (157) |
| 85 | EVA | ss8237655800 | Nov 01, 2024 (157) |
| 86 | 1000G_HIGH_COVERAGE | ss8285087498 | Nov 01, 2024 (157) |
| 87 | TRAN_CS_UWATERLOO | ss8314429323 | Nov 01, 2024 (157) |
| 88 | EVA | ss8395322466 | Nov 01, 2024 (157) |
| 89 | HUGCELL_USP | ss8480547558 | Nov 01, 2024 (157) |
| 90 | HUGCELL_USP | ss8480547559 | Nov 01, 2024 (157) |
| 91 | EVA | ss8512473885 | Nov 01, 2024 (157) |
| 92 | 1000G_HIGH_COVERAGE | ss8579564177 | Nov 01, 2024 (157) |
| 93 | SANFORD_IMAGENETICS | ss8624255698 | Nov 01, 2024 (157) |
| 94 | SANFORD_IMAGENETICS | ss8649885633 | Nov 01, 2024 (157) |
| 95 | TOMMO_GENOMICS | ss8745186083 | Nov 01, 2024 (157) |
| 96 | EVA | ss8824807345 | Nov 01, 2024 (157) |
| 97 | EVA | ss8847605617 | Nov 01, 2024 (157) |
| 98 | EVA | ss8880085415 | Nov 01, 2024 (157) |
| 99 | EVA | ss8941172175 | Nov 01, 2024 (157) |
| 100 | EVA | ss8979335315 | Nov 01, 2024 (157) |
| 101 | EVA | ss8982151820 | Nov 01, 2024 (157) |
| 102 | 1000Genomes | NC_000010.10 - 96522463 | Oct 12, 2018 (152) |
| 103 | 1000Genomes_30X | NC_000010.11 - 94762706 | Nov 01, 2024 (157) |
| 104 | The Avon Longitudinal Study of Parents and Children | NC_000010.10 - 96522463 | Oct 12, 2018 (152) |
| 105 | Genome-wide autozygosity in Daghestan | NC_000010.9 - 96512453 | Apr 26, 2020 (154) |
| 106 | Genetic variation in the Estonian population | NC_000010.10 - 96522463 | Oct 12, 2018 (152) |
| 107 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 108 |
ExAC
Submission ignored due to conflicting rows: |
- | Oct 12, 2018 (152) |
| 109 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 01, 2024 (157) |
| 110 |
gnomAD v4 - Exomes
Submission ignored due to conflicting rows: |
- | Nov 01, 2024 (157) |
| 111 |
gnomAD v4 - Genomes
Submission ignored due to conflicting rows: |
- | Nov 01, 2024 (157) |
| 112 |
gnomAD v4 - Genomes
Submission ignored due to conflicting rows: |
- | Nov 01, 2024 (157) |
| 113 | Genome of the Netherlands Release 5 | NC_000010.10 - 96522463 | Apr 26, 2020 (154) |
| 114 | HapMap | NC_000010.11 - 94762706 | Apr 26, 2020 (154) |
| 115 | KOREAN population from KRGDB | NC_000010.10 - 96522463 | Apr 26, 2020 (154) |
| 116 | Korean Genome Project | NC_000010.11 - 94762706 | Apr 26, 2020 (154) |
| 117 | Korean Genome Project 4K | NC_000010.11 - 94762706 | Nov 01, 2024 (157) |
| 118 | Medical Genome Project healthy controls from Spanish population | NC_000010.10 - 96522463 | Apr 26, 2020 (154) |
| 119 | Northern Sweden | NC_000010.10 - 96522463 | Jul 13, 2019 (153) |
| 120 | 38KJPN | NC_000010.11 - 94762706 | Nov 01, 2024 (157) |
| 121 | TopMed | NC_000010.11 - 94762706 | Apr 26, 2021 (155) |
| 122 | UK 10K study - Twins | NC_000010.10 - 96522463 | Oct 12, 2018 (152) |
| 123 | ALFA | NC_000010.11 - 94762706 | Nov 01, 2024 (157) |
| 124 | ClinVar | RCV000018399.36 | Nov 01, 2024 (157) |
| 125 | ClinVar | RCV000383294.13 | Nov 01, 2024 (157) |
| 126 | ClinVar | RCV000782432.8 | Nov 01, 2024 (157) |
| 127 | ClinVar | RCV000782442.9 | Nov 01, 2024 (157) |
| 128 | ClinVar | RCV000782443.10 | Nov 01, 2024 (157) |
| 129 | ClinVar | RCV000782450.9 | Nov 01, 2024 (157) |
| 130 | ClinVar | RCV000782451.10 | Nov 01, 2024 (157) |
| 131 | ClinVar | RCV000782454.10 | Nov 01, 2024 (157) |
| 132 | ClinVar | RCV000782455.9 | Nov 01, 2024 (157) |
| 133 | ClinVar | RCV000782456.9 | Nov 01, 2024 (157) |
| 134 | ClinVar | RCV000782457.9 | Nov 01, 2024 (157) |
| 135 | ClinVar | RCV000782458.9 | Nov 01, 2024 (157) |
| 136 | ClinVar | RCV000782459.11 | Nov 01, 2024 (157) |
| 137 | ClinVar | RCV000782460.10 | Nov 01, 2024 (157) |
| 138 | ClinVar | RCV000782461.10 | Nov 01, 2024 (157) |
| 139 | ClinVar | RCV000782490.9 | Nov 01, 2024 (157) |
| 140 | ClinVar | RCV000782491.9 | Nov 01, 2024 (157) |
| 141 | ClinVar | RCV000782492.10 | Nov 01, 2024 (157) |
| 142 | ClinVar | RCV000782493.10 | Nov 01, 2024 (157) |
| 143 | ClinVar | RCV000782529.10 | Nov 01, 2024 (157) |
| 144 | ClinVar | RCV000782530.9 | Nov 01, 2024 (157) |
| 145 | ClinVar | RCV000782531.9 | Nov 01, 2024 (157) |
| 146 | ClinVar | RCV000782532.9 | Nov 01, 2024 (157) |
| 147 | ClinVar | RCV000782533.9 | Nov 01, 2024 (157) |
| 148 | ClinVar | RCV000782534.10 | Nov 01, 2024 (157) |
| 149 | ClinVar | RCV000782535.10 | Nov 01, 2024 (157) |
| 150 | ClinVar | RCV000782536.10 | Nov 01, 2024 (157) |
| 151 | ClinVar | RCV000782537.10 | Nov 01, 2024 (157) |
| 152 | ClinVar | RCV000782650.9 | Nov 01, 2024 (157) |
| 153 | ClinVar | RCV000782651.9 | Nov 01, 2024 (157) |
| 154 | ClinVar | RCV000782652.9 | Nov 01, 2024 (157) |
| 155 | ClinVar | RCV000782653.9 | Nov 01, 2024 (157) |
| 156 | ClinVar | RCV000782654.9 | Nov 01, 2024 (157) |
| 157 | ClinVar | RCV000782655.9 | Nov 01, 2024 (157) |
| 158 | ClinVar | RCV000782656.9 | Nov 01, 2024 (157) |
| 159 | ClinVar | RCV000782657.9 | Nov 01, 2024 (157) |
| 160 | ClinVar | RCV000782658.10 | Nov 01, 2024 (157) |
| 161 | ClinVar | RCV000782659.10 | Nov 01, 2024 (157) |
| 162 | ClinVar | RCV000782660.10 | Nov 01, 2024 (157) |
| 163 | ClinVar | RCV000782661.10 | Nov 01, 2024 (157) |
| 164 | ClinVar | RCV000782662.10 | Nov 01, 2024 (157) |
| 165 | ClinVar | RCV000782663.10 | Nov 01, 2024 (157) |
| 166 | ClinVar | RCV000782664.10 | Nov 01, 2024 (157) |
| 167 | ClinVar | RCV000782697.9 | Nov 01, 2024 (157) |
| 168 | ClinVar | RCV000782711.9 | Nov 01, 2024 (157) |
| 169 | ClinVar | RCV000782712.9 | Nov 01, 2024 (157) |
| 170 | ClinVar | RCV000782713.10 | Nov 01, 2024 (157) |
| 171 | ClinVar | RCV000782714.10 | Nov 01, 2024 (157) |
| 172 | ClinVar | RCV000782716.9 | Nov 01, 2024 (157) |
| 173 | ClinVar | RCV000782717.9 | Nov 01, 2024 (157) |
| 174 | ClinVar | RCV000782718.9 | Nov 01, 2024 (157) |
| 175 | ClinVar | RCV000782719.9 | Nov 01, 2024 (157) |
| 176 | ClinVar | RCV000782720.9 | Nov 01, 2024 (157) |
| 177 | ClinVar | RCV000782721.9 | Nov 01, 2024 (157) |
| 178 | ClinVar | RCV000782722.10 | Nov 01, 2024 (157) |
| 179 | ClinVar | RCV000782723.10 | Nov 01, 2024 (157) |
| 180 | ClinVar | RCV000782724.10 | Nov 01, 2024 (157) |
| 181 | ClinVar | RCV000782725.9 | Nov 01, 2024 (157) |
| 182 | ClinVar | RCV000782726.10 | Nov 01, 2024 (157) |
| 183 | ClinVar | RCV000782727.10 | Nov 01, 2024 (157) |
| 184 | ClinVar | RCV000782728.10 | Nov 01, 2024 (157) |
| 185 | ClinVar | RCV000782729.10 | Nov 01, 2024 (157) |
| 186 | ClinVar | RCV000782730.10 | Nov 01, 2024 (157) |
| 187 | ClinVar | RCV000782731.10 | Nov 01, 2024 (157) |
| 188 | ClinVar | RCV000782732.11 | Nov 01, 2024 (157) |
| 189 | ClinVar | RCV000782733.10 | Nov 01, 2024 (157) |
| 190 | ClinVar | RCV000782980.9 | Nov 01, 2024 (157) |
| 191 | ClinVar | RCV000782981.9 | Nov 01, 2024 (157) |
| 192 | ClinVar | RCV000782982.9 | Nov 01, 2024 (157) |
| 193 | ClinVar | RCV000782983.9 | Nov 01, 2024 (157) |
| 194 | ClinVar | RCV000782984.9 | Nov 01, 2024 (157) |
| 195 | ClinVar | RCV000782985.9 | Nov 01, 2024 (157) |
| 196 | ClinVar | RCV000782986.9 | Nov 01, 2024 (157) |
| 197 | ClinVar | RCV000782987.9 | Nov 01, 2024 (157) |
| 198 | ClinVar | RCV000782988.9 | Nov 01, 2024 (157) |
| 199 | ClinVar | RCV000782989.9 | Nov 01, 2024 (157) |
| 200 | ClinVar | RCV000782990.9 | Nov 01, 2024 (157) |
| 201 | ClinVar | RCV000782991.9 | Nov 01, 2024 (157) |
| 202 | ClinVar | RCV000782992.10 | Nov 01, 2024 (157) |
| 203 | ClinVar | RCV000782993.10 | Nov 01, 2024 (157) |
| 204 | ClinVar | RCV000782994.10 | Nov 01, 2024 (157) |
| 205 | ClinVar | RCV000782995.10 | Nov 01, 2024 (157) |
| 206 | ClinVar | RCV000782996.10 | Nov 01, 2024 (157) |
| 207 | ClinVar | RCV000782997.10 | Nov 01, 2024 (157) |
| 208 | ClinVar | RCV000782998.10 | Nov 01, 2024 (157) |
| 209 | ClinVar | RCV000782999.10 | Nov 01, 2024 (157) |
| 210 | ClinVar | RCV000783000.10 | Nov 01, 2024 (157) |
| 211 | ClinVar | RCV000783070.9 | Nov 01, 2024 (157) |
| 212 | ClinVar | RCV000783071.10 | Nov 01, 2024 (157) |
| 213 | ClinVar | RCV000783090.10 | Nov 01, 2024 (157) |
| 214 | ClinVar | RCV000783091.10 | Nov 01, 2024 (157) |
| 215 | ClinVar | RCV000783092.10 | Nov 01, 2024 (157) |
| 216 | ClinVar | RCV000783093.10 | Nov 01, 2024 (157) |
| 217 | ClinVar | RCV000783150.9 | Nov 01, 2024 (157) |
| 218 | ClinVar | RCV000783151.9 | Nov 01, 2024 (157) |
| 219 | ClinVar | RCV000783152.9 | Nov 01, 2024 (157) |
| 220 | ClinVar | RCV000783153.9 | Nov 01, 2024 (157) |
| 221 | ClinVar | RCV000783154.9 | Nov 01, 2024 (157) |
| 222 | ClinVar | RCV000783171.10 | Nov 01, 2024 (157) |
| 223 | ClinVar | RCV000783183.10 | Nov 01, 2024 (157) |
| 224 | ClinVar | RCV000783184.9 | Nov 01, 2024 (157) |
| 225 | ClinVar | RCV000783185.9 | Nov 01, 2024 (157) |
| 226 | ClinVar | RCV000783186.9 | Nov 01, 2024 (157) |
| 227 | ClinVar | RCV000783187.10 | Nov 01, 2024 (157) |
| 228 | ClinVar | RCV000783188.10 | Nov 01, 2024 (157) |
| 229 | ClinVar | RCV000783189.10 | Nov 01, 2024 (157) |
| 230 | ClinVar | RCV000783190.10 | Nov 01, 2024 (157) |
| 231 | ClinVar | RCV000783191.10 | Nov 01, 2024 (157) |
| 232 | ClinVar | RCV000783318.9 | Nov 01, 2024 (157) |
| 233 | ClinVar | RCV000783319.9 | Nov 01, 2024 (157) |
| 234 | ClinVar | RCV000783320.9 | Nov 01, 2024 (157) |
| 235 | ClinVar | RCV000783321.9 | Nov 01, 2024 (157) |
| 236 | ClinVar | RCV000783322.9 | Nov 01, 2024 (157) |
| 237 | ClinVar | RCV000783323.9 | Nov 01, 2024 (157) |
| 238 | ClinVar | RCV000783324.9 | Nov 01, 2024 (157) |
| 239 | ClinVar | RCV000783325.10 | Nov 01, 2024 (157) |
| 240 | ClinVar | RCV000783326.10 | Nov 01, 2024 (157) |
| 241 | ClinVar | RCV000783466.9 | Nov 01, 2024 (157) |
| 242 | ClinVar | RCV000783467.9 | Nov 01, 2024 (157) |
| 243 | ClinVar | RCV000783468.9 | Nov 01, 2024 (157) |
| 244 | ClinVar | RCV000783469.9 | Nov 01, 2024 (157) |
| 245 | ClinVar | RCV000783470.9 | Nov 01, 2024 (157) |
| 246 | ClinVar | RCV000783471.9 | Nov 01, 2024 (157) |
| 247 | ClinVar | RCV000783472.10 | Nov 01, 2024 (157) |
| 248 | ClinVar | RCV000783473.10 | Nov 01, 2024 (157) |
| 249 | ClinVar | RCV000783505.9 | Nov 01, 2024 (157) |
| 250 | ClinVar | RCV000783522.9 | Nov 01, 2024 (157) |
| 251 | ClinVar | RCV000783523.10 | Nov 01, 2024 (157) |
| 252 | ClinVar | RCV000783524.10 | Nov 01, 2024 (157) |
| 253 | ClinVar | RCV000783525.10 | Nov 01, 2024 (157) |
| 254 | ClinVar | RCV000783526.10 | Nov 01, 2024 (157) |
| 255 | ClinVar | RCV000783527.10 | Nov 01, 2024 (157) |
| 256 | ClinVar | RCV000783528.10 | Nov 01, 2024 (157) |
| 257 | ClinVar | RCV000783585.9 | Nov 01, 2024 (157) |
| 258 | ClinVar | RCV000783586.9 | Nov 01, 2024 (157) |
| 259 | ClinVar | RCV000783587.10 | Nov 01, 2024 (157) |
| 260 | ClinVar | RCV000783588.10 | Nov 01, 2024 (157) |
| 261 | ClinVar | RCV000783616.9 | Nov 01, 2024 (157) |
| 262 | ClinVar | RCV000783617.10 | Nov 01, 2024 (157) |
| 263 | ClinVar | RCV000783621.9 | Nov 01, 2024 (157) |
| 264 | ClinVar | RCV000783622.10 | Nov 01, 2024 (157) |
| 265 | ClinVar | RCV000783628.9 | Nov 01, 2024 (157) |
| 266 | ClinVar | RCV000783629.9 | Nov 01, 2024 (157) |
| 267 | ClinVar | RCV000783630.10 | Nov 01, 2024 (157) |
| 268 | ClinVar | RCV000783631.11 | Nov 01, 2024 (157) |
| 269 | ClinVar | RCV000783632.10 | Nov 01, 2024 (157) |
| 270 | ClinVar | RCV000783633.10 | Nov 01, 2024 (157) |
| 271 | ClinVar | RCV000783634.10 | Nov 01, 2024 (157) |
| 272 | ClinVar | RCV000783635.10 | Nov 01, 2024 (157) |
| 273 | ClinVar | RCV000783649.11 | Nov 01, 2024 (157) |
| 274 | ClinVar | RCV000783668.10 | Nov 01, 2024 (157) |
| 275 | ClinVar | RCV000783669.10 | Nov 01, 2024 (157) |
| 276 | ClinVar | RCV000783675.9 | Nov 01, 2024 (157) |
| 277 | ClinVar | RCV000783676.10 | Nov 01, 2024 (157) |
| 278 | ClinVar | RCV000783681.10 | Nov 01, 2024 (157) |
| 279 | ClinVar | RCV000783682.10 | Nov 01, 2024 (157) |
| 280 | ClinVar | RCV000783683.10 | Nov 01, 2024 (157) |
| 281 | ClinVar | RCV000783753.9 | Nov 01, 2024 (157) |
| 282 | ClinVar | RCV000783754.9 | Nov 01, 2024 (157) |
| 283 | ClinVar | RCV000783755.9 | Nov 01, 2024 (157) |
| 284 | ClinVar | RCV000783756.9 | Nov 01, 2024 (157) |
| 285 | ClinVar | RCV000783757.9 | Nov 01, 2024 (157) |
| 286 | ClinVar | RCV000783758.9 | Nov 01, 2024 (157) |
| 287 | ClinVar | RCV000783759.10 | Nov 01, 2024 (157) |
| 288 | ClinVar | RCV000783760.10 | Nov 01, 2024 (157) |
| 289 | ClinVar | RCV000783761.10 | Nov 01, 2024 (157) |
| 290 | ClinVar | RCV000783762.10 | Nov 01, 2024 (157) |
| 291 | ClinVar | RCV000783763.10 | Nov 01, 2024 (157) |
| 292 | ClinVar | RCV000783764.10 | Nov 01, 2024 (157) |
| 293 | ClinVar | RCV000783765.10 | Nov 01, 2024 (157) |
| 294 | ClinVar | RCV000783766.10 | Nov 01, 2024 (157) |
| 295 | ClinVar | RCV000783767.10 | Nov 01, 2024 (157) |
| 296 | ClinVar | RCV000783884.9 | Nov 01, 2024 (157) |
| 297 | ClinVar | RCV000783885.9 | Nov 01, 2024 (157) |
| 298 | ClinVar | RCV000783886.9 | Nov 01, 2024 (157) |
| 299 | ClinVar | RCV000783887.9 | Nov 01, 2024 (157) |
| 300 | ClinVar | RCV000783888.10 | Nov 01, 2024 (157) |
| 301 | ClinVar | RCV000783889.10 | Nov 01, 2024 (157) |
| 302 | ClinVar | RCV000783890.10 | Nov 01, 2024 (157) |
| 303 | ClinVar | RCV000783891.10 | Nov 01, 2024 (157) |
| 304 | ClinVar | RCV000783892.10 | Nov 01, 2024 (157) |
| 305 | ClinVar | RCV000783925.9 | Nov 01, 2024 (157) |
| 306 | ClinVar | RCV000783926.10 | Nov 01, 2024 (157) |
| 307 | ClinVar | RCV000783927.10 | Nov 01, 2024 (157) |
| 308 | ClinVar | RCV000783950.10 | Nov 01, 2024 (157) |
| 309 | ClinVar | RCV000783951.9 | Nov 01, 2024 (157) |
| 310 | ClinVar | RCV000783952.9 | Nov 01, 2024 (157) |
| 311 | ClinVar | RCV000783953.9 | Nov 01, 2024 (157) |
| 312 | ClinVar | RCV000783954.9 | Nov 01, 2024 (157) |
| 313 | ClinVar | RCV000783955.9 | Nov 01, 2024 (157) |
| 314 | ClinVar | RCV000783956.9 | Nov 01, 2024 (157) |
| 315 | ClinVar | RCV000783957.9 | Nov 01, 2024 (157) |
| 316 | ClinVar | RCV000783958.11 | Nov 01, 2024 (157) |
| 317 | ClinVar | RCV000783959.10 | Nov 01, 2024 (157) |
| 318 | ClinVar | RCV000783960.10 | Nov 01, 2024 (157) |
| 319 | ClinVar | RCV000783961.10 | Nov 01, 2024 (157) |
| 320 | ClinVar | RCV000783962.10 | Nov 01, 2024 (157) |
| 321 | ClinVar | RCV000783963.10 | Nov 01, 2024 (157) |
| 322 | ClinVar | RCV000783964.10 | Nov 01, 2024 (157) |
| 323 | ClinVar | RCV000783965.10 | Nov 01, 2024 (157) |
| 324 | ClinVar | RCV000784214.9 | Nov 01, 2024 (157) |
| 325 | ClinVar | RCV000784215.9 | Nov 01, 2024 (157) |
| 326 | ClinVar | RCV000784216.9 | Nov 01, 2024 (157) |
| 327 | ClinVar | RCV000784217.9 | Nov 01, 2024 (157) |
| 328 | ClinVar | RCV000784218.9 | Nov 01, 2024 (157) |
| 329 | ClinVar | RCV000784219.9 | Nov 01, 2024 (157) |
| 330 | ClinVar | RCV000784220.9 | Nov 01, 2024 (157) |
| 331 | ClinVar | RCV000784221.9 | Nov 01, 2024 (157) |
| 332 | ClinVar | RCV000784222.10 | Nov 01, 2024 (157) |
| 333 | ClinVar | RCV000784223.10 | Nov 01, 2024 (157) |
| 334 | ClinVar | RCV000784224.10 | Nov 01, 2024 (157) |
| 335 | ClinVar | RCV000784225.10 | Nov 01, 2024 (157) |
| 336 | ClinVar | RCV000784226.10 | Nov 01, 2024 (157) |
| 337 | ClinVar | RCV000784227.10 | Nov 01, 2024 (157) |
| 338 | ClinVar | RCV000784228.10 | Nov 01, 2024 (157) |
| 339 | ClinVar | RCV000784229.10 | Nov 01, 2024 (157) |
| 340 | ClinVar | RCV000784230.10 | Nov 01, 2024 (157) |
| 341 | ClinVar | RCV000784231.10 | Nov 01, 2024 (157) |
| 342 | ClinVar | RCV000784232.10 | Nov 01, 2024 (157) |
| 343 | ClinVar | RCV000784319.9 | Nov 01, 2024 (157) |
| 344 | ClinVar | RCV000784320.9 | Nov 01, 2024 (157) |
| 345 | ClinVar | RCV000784321.9 | Nov 01, 2024 (157) |
| 346 | ClinVar | RCV000784322.10 | Nov 01, 2024 (157) |
| 347 | ClinVar | RCV000784323.9 | Nov 01, 2024 (157) |
| 348 | ClinVar | RCV000784324.9 | Nov 01, 2024 (157) |
| 349 | ClinVar | RCV000784325.10 | Nov 01, 2024 (157) |
| 350 | ClinVar | RCV000784326.10 | Nov 01, 2024 (157) |
| 351 | ClinVar | RCV000784385.9 | Nov 01, 2024 (157) |
| 352 | ClinVar | RCV000784386.10 | Nov 01, 2024 (157) |
| 353 | ClinVar | RCV000784387.10 | Nov 01, 2024 (157) |
| 354 | ClinVar | RCV000784388.10 | Nov 01, 2024 (157) |
| 355 | ClinVar | RCV000784389.10 | Nov 01, 2024 (157) |
| 356 | ClinVar | RCV000784390.10 | Nov 01, 2024 (157) |
| 357 | ClinVar | RCV000784391.10 | Nov 01, 2024 (157) |
| 358 | ClinVar | RCV000784408.9 | Nov 01, 2024 (157) |
| 359 | ClinVar | RCV000784414.9 | Nov 01, 2024 (157) |
| 360 | ClinVar | RCV000784415.10 | Nov 01, 2024 (157) |
| 361 | ClinVar | RCV000784417.9 | Nov 01, 2024 (157) |
| 362 | ClinVar | RCV000784418.9 | Nov 01, 2024 (157) |
| 363 | ClinVar | RCV000784419.9 | Nov 01, 2024 (157) |
| 364 | ClinVar | RCV000784420.9 | Nov 01, 2024 (157) |
| 365 | ClinVar | RCV000784421.10 | Nov 01, 2024 (157) |
| 366 | ClinVar | RCV000784422.10 | Nov 01, 2024 (157) |
| 367 | ClinVar | RCV000784423.10 | Nov 01, 2024 (157) |
| 368 | ClinVar | RCV000784424.11 | Nov 01, 2024 (157) |
| 369 | ClinVar | RCV000784554.9 | Nov 01, 2024 (157) |
| 370 | ClinVar | RCV000784555.9 | Nov 01, 2024 (157) |
| 371 | ClinVar | RCV000784556.9 | Nov 01, 2024 (157) |
| 372 | ClinVar | RCV000784557.10 | Nov 01, 2024 (157) |
| 373 | ClinVar | RCV000784558.10 | Nov 01, 2024 (157) |
| 374 | ClinVar | RCV000784559.10 | Nov 01, 2024 (157) |
| 375 | ClinVar | RCV000784560.10 | Nov 01, 2024 (157) |
| 376 | ClinVar | RCV000784561.10 | Nov 01, 2024 (157) |
| 377 | ClinVar | RCV000784562.10 | Nov 01, 2024 (157) |
| 378 | ClinVar | RCV000784563.10 | Nov 01, 2024 (157) |
| 379 | ClinVar | RCV000784564.10 | Nov 01, 2024 (157) |
| 380 | ClinVar | RCV000784701.9 | Nov 01, 2024 (157) |
| 381 | ClinVar | RCV000784702.9 | Nov 01, 2024 (157) |
| 382 | ClinVar | RCV000784703.9 | Nov 01, 2024 (157) |
| 383 | ClinVar | RCV000784704.9 | Nov 01, 2024 (157) |
| 384 | ClinVar | RCV000784705.10 | Nov 01, 2024 (157) |
| 385 | ClinVar | RCV000784706.10 | Nov 01, 2024 (157) |
| 386 | ClinVar | RCV000784707.10 | Nov 01, 2024 (157) |
| 387 | ClinVar | RCV000784708.10 | Nov 01, 2024 (157) |
| 388 | ClinVar | RCV000784709.10 | Nov 01, 2024 (157) |
| 389 | ClinVar | RCV000784710.10 | Nov 01, 2024 (157) |
| 390 | ClinVar | RCV000784711.10 | Nov 01, 2024 (157) |
| 391 | ClinVar | RCV000784712.10 | Nov 01, 2024 (157) |
| 392 | ClinVar | RCV000784737.10 | Nov 01, 2024 (157) |
| 393 | ClinVar | RCV000784756.9 | Nov 01, 2024 (157) |
| 394 | ClinVar | RCV000784757.9 | Nov 01, 2024 (157) |
| 395 | ClinVar | RCV000784758.9 | Nov 01, 2024 (157) |
| 396 | ClinVar | RCV000784759.10 | Nov 01, 2024 (157) |
| 397 | ClinVar | RCV000784760.9 | Nov 01, 2024 (157) |
| 398 | ClinVar | RCV000784805.9 | Nov 01, 2024 (157) |
| 399 | ClinVar | RCV000784806.9 | Nov 01, 2024 (157) |
| 400 | ClinVar | RCV000784807.9 | Nov 01, 2024 (157) |
| 401 | ClinVar | RCV000784808.9 | Nov 01, 2024 (157) |
| 402 | ClinVar | RCV000784809.10 | Nov 01, 2024 (157) |
| 403 | ClinVar | RCV000784810.10 | Nov 01, 2024 (157) |
| 404 | ClinVar | RCV000784811.10 | Nov 01, 2024 (157) |
| 405 | ClinVar | RCV000784812.10 | Nov 01, 2024 (157) |
| 406 | ClinVar | RCV000784849.9 | Nov 01, 2024 (157) |
| 407 | ClinVar | RCV000784850.10 | Nov 01, 2024 (157) |
| 408 | ClinVar | RCV000784851.10 | Nov 01, 2024 (157) |
| 409 | ClinVar | RCV000784852.9 | Nov 01, 2024 (157) |
| 410 | ClinVar | RCV000784853.9 | Nov 01, 2024 (157) |
| 411 | ClinVar | RCV000784854.9 | Nov 01, 2024 (157) |
| 412 | ClinVar | RCV000784855.9 | Nov 01, 2024 (157) |
| 413 | ClinVar | RCV000784856.10 | Nov 01, 2024 (157) |
| 414 | ClinVar | RCV000784857.10 | 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).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 60864, ss480688673, ss491629922, ss1397589434, ss1597477667, ss3642869286 | NC_000010.9:96512452:A:G | NC_000010.11:94762705:A:G | (self) |
| 51054443, 28345318, 20116234, 12639209, 30132853, 381522, 10870341, 28345318, ss342304089, ss461821354, ss480704165, ss481563471, ss485139169, ss491001620, ss491438594, ss537136132, ss778509014, ss783015874, ss783976002, ss832273316, ss832927931, ss833965237, ss987804344, ss1338623028, ss1625195778, ss1668189811, ss1690011692, ss1711265762, ss1751988261, ss1959284921, ss2632748359, ss2632748360, ss2738420536, ss2748441407, ss2892126710, ss2984919974, ss2985568267, ss3006965817, ss3021264854, ss3626509880, ss3630771616, ss3632960298, ss3633657942, ss3634417800, ss3635350223, ss3636101990, ss3637100926, ss3637867211, ss3640125141, ss3651623278, ss3653690708, ss3674377986, ss3737585476, ss3744718771, ss3748468202, ss3772219127, ss3824540886, ss3825780767, ss3922955459, ss6253826069, ss6307409888, ss6322395596, ss8395322466, ss8512473885, ss8624255698, ss8649885633, ss8824807345, ss8847605617, ss8941172175, ss8979335315, ss8982151820 | NC_000010.10:96522462:A:G | NC_000010.11:94762705:A:G | (self) |
| RCV000018399.36, RCV000383294.13, RCV000782432.8, RCV000782442.9, RCV000782443.10, RCV000782450.9, RCV000782451.10, RCV000782454.10, RCV000782455.9, RCV000782456.9, RCV000782457.9, RCV000782458.9, RCV000782459.11, RCV000782460.10, RCV000782461.10, RCV000782490.9, RCV000782491.9, RCV000782492.10, RCV000782493.10, RCV000782529.10, RCV000782530.9, RCV000782531.9, RCV000782532.9, RCV000782533.9, RCV000782534.10, RCV000782535.10, RCV000782536.10, RCV000782537.10, RCV000782650.9, RCV000782651.9, RCV000782652.9, RCV000782653.9, RCV000782654.9, RCV000782655.9, RCV000782656.9, RCV000782657.9, RCV000782658.10, RCV000782659.10, RCV000782660.10, RCV000782661.10, RCV000782662.10, RCV000782663.10, RCV000782664.10, RCV000782697.9, RCV000782711.9, RCV000782712.9, RCV000782713.10, RCV000782714.10, RCV000782716.9, RCV000782717.9, RCV000782718.9, RCV000782719.9, RCV000782720.9, RCV000782721.9, RCV000782722.10, RCV000782723.10, RCV000782724.10, RCV000782725.9, RCV000782726.10, RCV000782727.10, RCV000782728.10, RCV000782729.10, RCV000782730.10, RCV000782731.10, RCV000782732.11, RCV000782733.10, RCV000782980.9, RCV000782981.9, RCV000782982.9, RCV000782983.9, RCV000782984.9, RCV000782985.9, RCV000782986.9, RCV000782987.9, RCV000782988.9, RCV000782989.9, RCV000782990.9, RCV000782991.9, RCV000782992.10, RCV000782993.10, RCV000782994.10, RCV000782995.10, RCV000782996.10, RCV000782997.10, RCV000782998.10, RCV000782999.10, RCV000783000.10, RCV000783070.9, RCV000783071.10, RCV000783090.10, RCV000783091.10, RCV000783092.10, RCV000783093.10, RCV000783150.9, RCV000783151.9, RCV000783152.9, RCV000783153.9, RCV000783154.9, RCV000783171.10, RCV000783183.10, RCV000783184.9, RCV000783185.9, RCV000783186.9, RCV000783187.10, RCV000783188.10, RCV000783189.10, RCV000783190.10, RCV000783191.10, RCV000783318.9, RCV000783319.9, RCV000783320.9, RCV000783321.9, RCV000783322.9, RCV000783323.9, RCV000783324.9, RCV000783325.10, RCV000783326.10, RCV000783466.9, RCV000783467.9, RCV000783468.9, RCV000783469.9, RCV000783470.9, RCV000783471.9, RCV000783472.10, RCV000783473.10, RCV000783505.9, RCV000783522.9, RCV000783523.10, RCV000783524.10, RCV000783525.10, RCV000783526.10, RCV000783527.10, RCV000783528.10, RCV000783585.9, RCV000783586.9, RCV000783587.10, RCV000783588.10, RCV000783616.9, RCV000783617.10, RCV000783621.9, RCV000783622.10, RCV000783628.9, RCV000783629.9, RCV000783630.10, RCV000783631.11, RCV000783632.10, RCV000783633.10, RCV000783634.10, RCV000783635.10, RCV000783649.11, RCV000783668.10, RCV000783669.10, RCV000783675.9, RCV000783676.10, RCV000783681.10, RCV000783682.10, RCV000783683.10, RCV000783753.9, RCV000783754.9, RCV000783755.9, RCV000783756.9, RCV000783757.9, RCV000783758.9, RCV000783759.10, RCV000783760.10, RCV000783761.10, RCV000783762.10, RCV000783763.10, RCV000783764.10, RCV000783765.10, RCV000783766.10, RCV000783767.10, RCV000783884.9, RCV000783885.9, RCV000783886.9, RCV000783887.9, RCV000783888.10, RCV000783889.10, RCV000783890.10, RCV000783891.10, RCV000783892.10, RCV000783925.9, RCV000783926.10, RCV000783927.10, RCV000783950.10, RCV000783951.9, RCV000783952.9, RCV000783953.9, RCV000783954.9, RCV000783955.9, RCV000783956.9, RCV000783957.9, RCV000783958.11, RCV000783959.10, RCV000783960.10, RCV000783961.10, RCV000783962.10, RCV000783963.10, RCV000783964.10, RCV000783965.10, RCV000784214.9, RCV000784215.9, RCV000784216.9, RCV000784217.9, RCV000784218.9, RCV000784219.9, RCV000784220.9, RCV000784221.9, RCV000784222.10, RCV000784223.10, RCV000784224.10, RCV000784225.10, RCV000784226.10, RCV000784227.10, RCV000784228.10, RCV000784229.10, RCV000784230.10, RCV000784231.10, RCV000784232.10, RCV000784319.9, RCV000784320.9, RCV000784321.9, RCV000784322.10, RCV000784323.9, RCV000784324.9, RCV000784325.10, RCV000784326.10, RCV000784385.9, RCV000784386.10, RCV000784387.10, RCV000784388.10, RCV000784389.10, RCV000784390.10, RCV000784391.10, RCV000784408.9, RCV000784414.9, RCV000784415.10, RCV000784417.9, RCV000784418.9, RCV000784419.9, RCV000784420.9, RCV000784421.10, RCV000784422.10, RCV000784423.10, RCV000784424.11, RCV000784554.9, RCV000784555.9, RCV000784556.9, RCV000784557.10, RCV000784558.10, RCV000784559.10, RCV000784560.10, RCV000784561.10, RCV000784562.10, RCV000784563.10, RCV000784564.10, RCV000784701.9, RCV000784702.9, RCV000784703.9, RCV000784704.9, RCV000784705.10, RCV000784706.10, RCV000784707.10, RCV000784708.10, RCV000784709.10, RCV000784710.10, RCV000784711.10, RCV000784712.10, RCV000784737.10, RCV000784756.9, RCV000784757.9, RCV000784758.9, RCV000784759.10, RCV000784760.9, RCV000784805.9, RCV000784806.9, RCV000784807.9, RCV000784808.9, RCV000784809.10, RCV000784810.10, RCV000784811.10, RCV000784812.10, RCV000784849.9, RCV000784850.10, RCV000784851.10, RCV000784852.9, RCV000784853.9, RCV000784854.9, RCV000784855.9, RCV000784856.10, RCV000784857.10, 67090112, 468171, 24836164, 32140572, 131576404, 78168511, 5326903084, ss244238826, ss275514385, ss2177147158, ss3690461681, ss3725179464, ss3968458163, ss4862622856, ss6114200584, ss6322063339, ss6382288674, ss6440422555, ss6859874570, ss8236886073, ss8237655800, ss8285087498, ss8314429323, ss8480547559, ss8579564177, ss8745186083, ss8880085415 | NC_000010.11:94762705:A:G | NC_000010.11:94762705:A:G | (self) |
| ss32475248, ss75259526, ss105439386, ss119899974, ss154239850, ss159416271, ss160587289, ss173494033, ss244292341 | NT_030059.13:47326926:A:G | NC_000010.11:94762705:A:G | (self) |
| ss1690011693, ss2738420536 | NC_000010.10:96522462:A:T | NC_000010.11:94762705:A:T | (self) |
| ss2177147158, ss6440422556, ss6859874571, ss8480547558 | NC_000010.11:94762705:A:T | NC_000010.11:94762705:A:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
39
citations for rs28399504
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 9435198 | A new genetic defect in human CYP2C19: mutation of the initiation codon is responsible for poor metabolism of S-mephenytoin. | Ferguson RJ et al. | 1998 | The Journal of pharmacology and experimental therapeutics |
| 18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
| 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 |
| 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 |
| 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) |
| 20440227 | Clopidogrel pathway. | Sangkuhl K et al. | 2010 | Pharmacogenetics and genomics |
| 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 |
| 20965456 | Pilot study of the antiplatelet effect of increased clopidogrel maintenance dosing and its relationship to CYP2C19 genotype in patients with high on-treatment reactivity. | Barker CM et al. | 2010 | JACC. Cardiovascular interventions |
| 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 |
| 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 |
| 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.) |
| 22190063 | Predicting clopidogrel response using DNA samples linked to an electronic health record. | Delaney JT et al. | 2012 | Clinical pharmacology and therapeutics |
| 22491019 | Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes. | Martis S et al. | 2013 | The pharmacogenomics journal |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 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 |
| 24282029 | Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. | Gordon AS et al. | 2014 | Human molecular genetics |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25714468 | A systematic approach to the reporting of medically relevant findings from whole genome sequencing. | McLaughlin HM et al. | 2014 | BMC medical genetics |
| 26265231 | Genetic and platelet function testing of antiplatelet therapy for percutaneous coronary intervention: the ARCTIC-GENE study. | Collet JP et al. | 2015 | European journal of clinical pharmacology |
| 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 |
| 26857559 | A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers. | León-Cachón RBR et al. | 2016 | BMC cancer |
| 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 |
| 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 |
| 30214584 | Influence of SLCO1B1 in gastric cancer patients treated with EOF chemotherapy. | Feng W et al. | 2018 | Oncology letters |
| 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 |
| 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 |
| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
| 33805706 | SLCO1B1 Phenotype and CYP3A5 Polymorphism Significantly Affect Atorvastatin Bioavailability. | Zubiaur P et al. | 2021 | Journal of personalized medicine |
| 33995083 | Dexketoprofen Pharmacokinetics is not Significantly Altered by Genetic Polymorphism. | Mejía-Abril G et al. | 2021 | Frontiers in pharmacology |
| 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 |
| 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 |
| 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 |
| 36065758 | CYP2C8*3 and *4 define CYP2C8 phenotype: An approach with the substrate cinitapride. | Campodónico DM et al. | 2022 | Clinical and translational science |
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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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.