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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs12769205

Current Build 157

Released September 3, 2024

Organism
Homo sapiens
Position
chr10:94775367 (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>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.1639554 (229654/1400710, GnomAD_exomes)
G=0.166750 (44137/264690, TOPMED)
G=0.173517 (25828/148850, GnomAD_genomes) (+ 22 more)
G=0.186267 (22539/121004, ExAC)
G=0.30020 (23249/77444, 38KJPN)
G=0.14643 (5363/36624, ALFA)
G=0.16193 (2106/13006, GO-ESP)
G=0.2777 (2008/7230, Korea4K)
G=0.2238 (1433/6404, 1000G_30X)
G=0.2284 (1144/5008, 1000G)
G=0.1364 (611/4480, Estonian)
G=0.1502 (579/3854, ALSPAC)
G=0.1508 (559/3708, TWINSUK)
G=0.2765 (810/2930, KOREAN)
G=0.2855 (523/1832, Korea1K)
G=0.141 (141/998, GoNL)
G=0.147 (88/600, NorthernSweden)
G=0.184 (98/534, MGP)
G=0.184 (56/304, FINRISK)
G=0.097 (21/216, Qatari)
G=0.283 (60/212, Vietnamese)
A=0.399 (71/178, SGDP_PRJ)
G=0.17 (7/40, GENOME_DK)
A=0.50 (6/12, Siberian)
G=0.50 (6/12, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CYP2C19 : Intron Variant
Publications
9 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 36624 A=0.85357 G=0.14643 0.731433 0.024301 0.244266 6
European Sub 21912 A=0.85775 G=0.14225 0.738226 0.022727 0.239047 3
African Sub 3880 A=0.8018 G=0.1982 0.649485 0.045876 0.304639 2
African Others Sub 122 A=0.746 G=0.254 0.557377 0.065574 0.377049 0
African American Sub 3758 A=0.8036 G=0.1964 0.652475 0.045237 0.302288 2
Asian Sub 194 A=0.711 G=0.289 0.525773 0.103093 0.371134 1
East Asian Sub 132 A=0.705 G=0.295 0.545455 0.136364 0.318182 2
Other Asian Sub 62 A=0.73 G=0.27 0.483871 0.032258 0.483871 1
Latin American 1 Sub 230 A=0.839 G=0.161 0.695652 0.017391 0.286957 0
Latin American 2 Sub 4696 A=0.8963 G=0.1037 0.803663 0.011073 0.185264 0
South Asian Sub 114 A=0.605 G=0.395 0.403509 0.192982 0.403509 1
Other Sub 5598 A=0.8478 G=0.1522 0.716327 0.020722 0.262951 1


Help

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
gnomAD v4 - Exomes Global Study-wide 1400710 A=0.8360446 G=0.1639554
gnomAD v4 - Exomes European Sub 1165338 A=0.8507128 G=0.1492872
gnomAD v4 - Exomes South Asian Sub 86220 A=0.67635 G=0.32365
gnomAD v4 - Exomes American Sub 44720 A=0.89233 G=0.10767
gnomAD v4 - Exomes East Asian Sub 39698 A=0.69686 G=0.30314
gnomAD v4 - Exomes African Sub 33454 A=0.79620 G=0.20380
gnomAD v4 - Exomes Ashkenazi Jewish Sub 26136 A=0.86551 G=0.13449
gnomAD v4 - Exomes Middle Eastern sub 5144 A=0.8839 G=0.1161
TopMed Global Study-wide 264690 A=0.833250 G=0.166750
gnomAD v4 - Genomes Global Study-wide 148850 A=0.826483 G=0.173517
gnomAD v4 - Genomes European Sub 78390 A=0.84724 G=0.15276
gnomAD v4 - Genomes African Sub 41466 A=0.80369 G=0.19631
gnomAD v4 - Genomes American Sub 15270 A=0.86719 G=0.13281
gnomAD v4 - Genomes East Asian Sub 5164 A=0.6882 G=0.3118
gnomAD v4 - Genomes South Asian Sub 4796 A=0.6689 G=0.3311
gnomAD v4 - Genomes Ashkenazi Jewish Sub 3470 A=0.8674 G=0.1326
gnomAD v4 - Genomes Middle Eastern sub 294 A=0.908 G=0.092
ExAC Global Study-wide 121004 A=0.813733 G=0.186267
ExAC Europe Sub 73128 A=0.84970 G=0.15030
ExAC Asian Sub 25066 A=0.67538 G=0.32462
ExAC American Sub 11524 A=0.89769 G=0.10231
ExAC African Sub 10380 A=0.79981 G=0.20019
ExAC Other Sub 906 A=0.830 G=0.170
38KJPN JAPANESE Study-wide 77444 A=0.69980 G=0.30020
Allele Frequency Aggregator Total Global 36624 A=0.85357 G=0.14643
Allele Frequency Aggregator European Sub 21912 A=0.85775 G=0.14225
Allele Frequency Aggregator Other Sub 5598 A=0.8478 G=0.1522
Allele Frequency Aggregator Latin American 2 Sub 4696 A=0.8963 G=0.1037
Allele Frequency Aggregator African Sub 3880 A=0.8018 G=0.1982
Allele Frequency Aggregator Latin American 1 Sub 230 A=0.839 G=0.161
Allele Frequency Aggregator Asian Sub 194 A=0.711 G=0.289
Allele Frequency Aggregator South Asian Sub 114 A=0.605 G=0.395
GO Exome Sequencing Project Global Study-wide 13006 A=0.83807 G=0.16193
GO Exome Sequencing Project European American Sub 8600 A=0.8514 G=0.1486
GO Exome Sequencing Project African American Sub 4406 A=0.8121 G=0.1879
Korean Genome Project 4K KOREAN Study-wide 7230 A=0.7223 G=0.2777
1000Genomes_30X Global Study-wide 6404 A=0.7762 G=0.2238
1000Genomes_30X African Sub 1786 A=0.8096 G=0.1904
1000Genomes_30X Europe Sub 1266 A=0.8578 G=0.1422
1000Genomes_30X South Asian Sub 1202 A=0.6448 G=0.3552
1000Genomes_30X East Asian Sub 1170 A=0.6778 G=0.3222
1000Genomes_30X American Sub 980 A=0.889 G=0.111
1000Genomes Global Study-wide 5008 A=0.7716 G=0.2284
1000Genomes African Sub 1322 A=0.8033 G=0.1967
1000Genomes East Asian Sub 1008 A=0.6875 G=0.3125
1000Genomes Europe Sub 1006 A=0.8549 G=0.1451
1000Genomes South Asian Sub 978 A=0.642 G=0.358
1000Genomes American Sub 694 A=0.895 G=0.105
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8636 G=0.1364
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8498 G=0.1502
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8492 G=0.1508
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.7235 G=0.2765
Korean Genome Project KOREAN Study-wide 1832 A=0.7145 G=0.2855
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.859 G=0.141
Northern Sweden ACPOP Study-wide 600 A=0.853 G=0.147
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.816 G=0.184
FINRISK Finnish from FINRISK project Study-wide 304 A=0.816 G=0.184
Qatari Global Study-wide 216 A=0.903 G=0.097
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.717 G=0.283
SGDP_PRJ Global Study-wide 178 A=0.399 G=0.601
The Danish reference pan genome Danish Study-wide 40 A=0.82 G=0.17
Siberian Global Study-wide 12 A=0.50 G=0.50
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.94775367A>C
GRCh38.p14 chr 10 NC_000010.11:g.94775367A>G
GRCh38.p14 chr 10 NC_000010.11:g.94775367A>T
GRCh37.p13 chr 10 NC_000010.10:g.96535124A>C
GRCh37.p13 chr 10 NC_000010.10:g.96535124A>G
GRCh37.p13 chr 10 NC_000010.10:g.96535124A>T
CYP2C19 RefSeqGene (LRG_584) NG_008384.3:g.17687A>C
CYP2C19 RefSeqGene (LRG_584) NG_008384.3:g.17687A>G
CYP2C19 RefSeqGene (LRG_584) NG_008384.3:g.17687A>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.332-23A>C N/A Intron 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: 622287 )
ClinVar Accession Disease Names Clinical Significance
RCV000782431.10 CYP2C19: no function Drug-Response
RCV000782440.10 Clopidogrel response Drug-Response
RCV000782448.11 Clopidogrel response Drug-Response
RCV000782449.10 Clopidogrel response Drug-Response
RCV000782450.9 Clopidogrel response Drug-Response
RCV000782451.10 Clopidogrel response Drug-Response
RCV000782452.10 Clopidogrel response Drug-Response
RCV000782453.10 Clopidogrel response Drug-Response
RCV000782488.10 Citalopram response Drug-Response
RCV000782489.10 Escitalopram response Drug-Response
RCV000782498.10 Citalopram response Drug-Response
RCV000782499.10 Escitalopram response Drug-Response
RCV000782504.10 Citalopram response Drug-Response
RCV000782508.11 Citalopram response Drug-Response
RCV000782509.11 Escitalopram response Drug-Response
RCV000782513.10 Escitalopram response Drug-Response
RCV000782514.11 Citalopram response Drug-Response
RCV000782515.11 Escitalopram response Drug-Response
RCV000782516.10 Citalopram response Drug-Response
RCV000782517.10 Escitalopram response Drug-Response
RCV000782518.10 Citalopram response Drug-Response
RCV000782519.10 Escitalopram response Drug-Response
RCV000782629.10 Citalopram response Drug-Response
RCV000782630.10 Escitalopram response Drug-Response
RCV000782634.10 Escitalopram response Drug-Response
RCV000782635.10 Citalopram response Drug-Response
RCV000782636.10 Escitalopram response Drug-Response
RCV000782637.10 Citalopram response Drug-Response
RCV000782638.10 Escitalopram response Drug-Response
RCV000782639.10 Citalopram response Drug-Response
RCV000782640.10 Escitalopram response Drug-Response
RCV000782642.10 Escitalopram response Drug-Response
RCV000782643.10 Citalopram response Drug-Response
RCV000782644.10 Escitalopram response Drug-Response
RCV000782690.10 Escitalopram response Drug-Response
RCV000782691.10 Citalopram response Drug-Response
RCV000782692.10 Escitalopram response Drug-Response
RCV000782693.10 Citalopram response Drug-Response
RCV000782694.10 Escitalopram response Drug-Response
RCV000782695.10 Citalopram response Drug-Response
RCV000782695.10 Citalopram response Drug-Response
RCV000782696.10 Escitalopram response Drug-Response
RCV000782696.10 Escitalopram response Drug-Response
RCV000782697.9 Citalopram response Drug-Response
RCV000782698.10 Escitalopram response Drug-Response
RCV000782699.10 Citalopram response Drug-Response
RCV000782700.10 Escitalopram response Drug-Response
RCV000782705.10 Citalopram response Drug-Response
RCV000782706.10 Escitalopram response Drug-Response
RCV000782709.10 Citalopram response Drug-Response
RCV000782710.10 Escitalopram response Drug-Response
RCV000782720.9 Citalopram response Drug-Response
RCV000782721.9 Escitalopram response Drug-Response
RCV000782730.10 Citalopram response Drug-Response
RCV000782731.10 Escitalopram response Drug-Response
RCV000782738.10 Citalopram response Drug-Response
RCV000782739.10 Escitalopram response Drug-Response
RCV000782744.10 Citalopram response Drug-Response
RCV000782745.10 Escitalopram response Drug-Response
RCV000782757.10 Citalopram response Drug-Response
RCV000782758.10 Escitalopram response Drug-Response
RCV000782808.10 Escitalopram response Drug-Response
RCV000782880.10 Citalopram response Drug-Response
RCV000782881.10 Escitalopram response Drug-Response
RCV000782882.10 Citalopram response Drug-Response
RCV000782883.10 Escitalopram response Drug-Response
RCV000782884.10 Citalopram response Drug-Response
RCV000782885.10 Escitalopram response Drug-Response
RCV000782886.10 Citalopram response Drug-Response
RCV000782887.10 Escitalopram response Drug-Response
RCV000782908.10 Citalopram response Drug-Response
RCV000782909.10 Escitalopram response Drug-Response
RCV000782936.10 Citalopram response Drug-Response
RCV000782937.10 Escitalopram response Drug-Response
RCV000782969.10 Citalopram response Drug-Response
RCV000782970.10 Escitalopram response Drug-Response
RCV000782978.10 Citalopram response Drug-Response
RCV000782979.10 Escitalopram response Drug-Response
RCV000783069.10 Sertraline response Drug-Response
RCV000783076.10 Sertraline response Drug-Response
RCV000783079.11 Sertraline response Drug-Response
RCV000783083.10 Sertraline response Drug-Response
RCV000783139.10 Sertraline response Drug-Response
RCV000783140.10 Sertraline response Drug-Response
RCV000783141.10 Sertraline response Drug-Response
RCV000783142.10 Sertraline response Drug-Response
RCV000783143.10 Sertraline response Drug-Response
RCV000783144.10 Sertraline response Drug-Response
RCV000783145.10 Sertraline response Drug-Response
RCV000783171.10 Sertraline response Drug-Response
RCV000783172.10 Sertraline response Drug-Response
RCV000783173.10 Sertraline response Drug-Response
RCV000783174.10 Sertraline response Drug-Response
RCV000783175.10 Sertraline response Drug-Response
RCV000783177.10 Sertraline response Drug-Response
RCV000783182.11 Sertraline response Drug-Response
RCV000783186.9 Sertraline response Drug-Response
RCV000783194.10 Sertraline response Drug-Response
RCV000783199.10 Sertraline response Drug-Response
RCV000783205.10 Sertraline response Drug-Response
RCV000783231.10 Sertraline response Drug-Response
RCV000783269.10 Sertraline response Drug-Response
RCV000783270.10 Sertraline response Drug-Response
RCV000783283.10 Sertraline response Drug-Response
RCV000783297.10 Sertraline response Drug-Response
RCV000783313.10 Sertraline response Drug-Response
RCV000783317.10 Sertraline response Drug-Response
RCV000783380.10 Voriconazole response Drug-Response
RCV000783392.10 Voriconazole response Drug-Response
RCV000783415.10 Voriconazole response Drug-Response
RCV000783416.10 Voriconazole response Drug-Response
RCV000783417.10 Voriconazole response Drug-Response
RCV000783418.10 Voriconazole response Drug-Response
RCV000783444.10 Voriconazole response Drug-Response
RCV000783448.10 Voriconazole response Drug-Response
RCV000783455.10 Voriconazole response Drug-Response
RCV000783460.10 Voriconazole response Drug-Response
RCV000783464.10 Voriconazole response Drug-Response
RCV000783500.10 Voriconazole response Drug-Response
RCV000783504.10 Voriconazole response Drug-Response
RCV000783508.10 Voriconazole response Drug-Response
RCV000783511.10 Voriconazole response Drug-Response
RCV000783514.10 Voriconazole response Drug-Response
RCV000783515.10 Voriconazole response Drug-Response
RCV000783518.10 Voriconazole response Drug-Response
RCV000783571.10 Voriconazole response Drug-Response
RCV000783574.10 Voriconazole response Drug-Response
RCV000783575.10 Voriconazole response Drug-Response
RCV000783576.10 Voriconazole response Drug-Response
RCV000783577.10 Voriconazole response Drug-Response
RCV000783578.10 Voriconazole response Drug-Response
RCV000783613.10 Voriconazole response Drug-Response
RCV000783614.10 Voriconazole response Drug-Response
RCV000783615.10 Voriconazole response Drug-Response
RCV000783615.10 Voriconazole response Drug-Response
RCV000783616.9 Voriconazole response Drug-Response
RCV000783617.10 Voriconazole response Drug-Response
RCV000783618.10 Voriconazole response Drug-Response
RCV000783619.10 Voriconazole response Drug-Response
RCV000783620.10 Voriconazole response Drug-Response
RCV000783627.11 Voriconazole response Drug-Response
RCV000783630.10 Voriconazole response Drug-Response
RCV000783641.10 Voriconazole response Drug-Response
RCV000783646.10 Voriconazole response Drug-Response
RCV000783648.10 CYP2C19: no function Drug-Response
RCV000783666.11 Clopidogrel response Drug-Response
RCV000783672.10 Clopidogrel response Drug-Response
RCV000783673.10 Clopidogrel response Drug-Response
RCV000783712.10 Escitalopram response Drug-Response
RCV000783719.10 Citalopram response Drug-Response
RCV000783728.10 Escitalopram response Drug-Response
RCV000783733.10 Citalopram response Drug-Response
RCV000783734.10 Escitalopram response Drug-Response
RCV000783737.10 Citalopram response Drug-Response
RCV000783738.10 Escitalopram response Drug-Response
RCV000783739.10 Citalopram response Drug-Response
RCV000783740.10 Escitalopram response Drug-Response
RCV000783741.10 Citalopram response Drug-Response
RCV000783742.10 Escitalopram response Drug-Response
RCV000783743.10 Citalopram response Drug-Response
RCV000783747.10 Citalopram response Drug-Response
RCV000783748.10 Escitalopram response Drug-Response
RCV000783858.10 Citalopram response Drug-Response
RCV000783859.10 Escitalopram response Drug-Response
RCV000783862.10 Citalopram response Drug-Response
RCV000783863.10 Escitalopram response Drug-Response
RCV000783864.10 Citalopram response Drug-Response
RCV000783865.10 Escitalopram response Drug-Response
RCV000783866.10 Citalopram response Drug-Response
RCV000783867.10 Escitalopram response Drug-Response
RCV000783868.10 Citalopram response Drug-Response
RCV000783876.10 Citalopram response Drug-Response
RCV000783920.10 Citalopram response Drug-Response
RCV000783921.10 Escitalopram response Drug-Response
RCV000783922.11 Citalopram response Drug-Response
RCV000783923.11 Escitalopram response Drug-Response
RCV000783924.10 Citalopram response Drug-Response
RCV000783925.9 Escitalopram response Drug-Response
RCV000783926.10 Citalopram response Drug-Response
RCV000783927.10 Escitalopram response Drug-Response
RCV000783928.10 Citalopram response Drug-Response
RCV000783929.10 Escitalopram response Drug-Response
RCV000783930.10 Citalopram response Drug-Response
RCV000783931.10 Escitalopram response Drug-Response
RCV000783932.10 Citalopram response Drug-Response
RCV000783935.10 Citalopram response Drug-Response
RCV000783936.10 Escitalopram response Drug-Response
RCV000783948.11 Citalopram response Drug-Response
RCV000783949.11 Escitalopram response Drug-Response
RCV000783979.10 Citalopram response Drug-Response
RCV000783980.10 Escitalopram response Drug-Response
RCV000784040.10 Citalopram response Drug-Response
RCV000784065.10 Citalopram response Drug-Response
RCV000784066.10 Escitalopram response Drug-Response
RCV000784107.10 Citalopram response Drug-Response
RCV000784108.10 Escitalopram response Drug-Response
RCV000784109.10 Citalopram response Drug-Response
RCV000784110.10 Escitalopram response Drug-Response
RCV000784111.10 Citalopram response Drug-Response
RCV000784112.10 Escitalopram response Drug-Response
RCV000784113.10 Citalopram response Drug-Response
RCV000784114.10 Escitalopram response Drug-Response
RCV000784115.10 Citalopram response Drug-Response
RCV000784116.10 Escitalopram response Drug-Response
RCV000784117.10 Citalopram response Drug-Response
RCV000784118.10 Escitalopram response Drug-Response
RCV000784180.10 Citalopram response Drug-Response
RCV000784181.10 Escitalopram response Drug-Response
RCV000784196.10 Citalopram response Drug-Response
RCV000784197.10 Escitalopram response Drug-Response
RCV000784205.10 Citalopram response Drug-Response
RCV000784206.10 Escitalopram response Drug-Response
RCV000784211.10 Citalopram response Drug-Response
RCV000784212.10 Escitalopram response Drug-Response
RCV000784302.10 Sertraline response Drug-Response
RCV000784307.10 Sertraline response Drug-Response
RCV000784310.10 Sertraline response Drug-Response
RCV000784311.10 Sertraline response Drug-Response
RCV000784312.10 Sertraline response Drug-Response
RCV000784313.10 Sertraline response Drug-Response
RCV000784314.10 Sertraline response Drug-Response
RCV000784315.11 Sertraline response Drug-Response
RCV000784316.10 Sertraline response Drug-Response
RCV000784317.10 Sertraline response Drug-Response
RCV000784371.10 Sertraline response Drug-Response
RCV000784374.10 Sertraline response Drug-Response
RCV000784380.10 Sertraline response Drug-Response
RCV000784381.10 Sertraline response Drug-Response
RCV000784402.10 Sertraline response Drug-Response
RCV000784403.11 Sertraline response Drug-Response
RCV000784404.10 Sertraline response Drug-Response
RCV000784405.10 Sertraline response Drug-Response
RCV000784406.10 Sertraline response Drug-Response
RCV000784407.10 Sertraline response Drug-Response
RCV000784407.10 Sertraline response Drug-Response
RCV000784408.9 Sertraline response Drug-Response
RCV000784409.10 Sertraline response Drug-Response
RCV000784413.10 Sertraline response Drug-Response
RCV000784423.10 Sertraline response Drug-Response
RCV000784430.10 Sertraline response Drug-Response
RCV000784480.10 Sertraline response Drug-Response
RCV000784498.10 Sertraline response Drug-Response
RCV000784499.10 Sertraline response Drug-Response
RCV000784500.10 Sertraline response Drug-Response
RCV000784501.10 Sertraline response Drug-Response
RCV000784502.10 Sertraline response Drug-Response
RCV000784503.10 Sertraline response Drug-Response
RCV000784504.10 Sertraline response Drug-Response
RCV000784505.10 Sertraline response Drug-Response
RCV000784538.10 Sertraline response Drug-Response
RCV000784547.10 Sertraline response Drug-Response
RCV000784551.10 Sertraline response Drug-Response
RCV000784553.10 Sertraline response Drug-Response
RCV000784648.10 Voriconazole response Drug-Response
RCV000784649.10 Voriconazole response Drug-Response
RCV000784650.10 Voriconazole response Drug-Response
RCV000784651.10 Voriconazole response Drug-Response
RCV000784652.10 Voriconazole response Drug-Response
RCV000784653.10 Voriconazole response Drug-Response
RCV000784663.10 Voriconazole response Drug-Response
RCV000784698.10 Voriconazole response Drug-Response
RCV000784700.10 Voriconazole response Drug-Response
RCV000784744.10 Voriconazole response Drug-Response
RCV000784745.11 Voriconazole response Drug-Response
RCV000784748.10 Voriconazole response Drug-Response
RCV000784749.10 Voriconazole response Drug-Response
RCV000784750.10 Voriconazole response Drug-Response
RCV000784751.10 Voriconazole response Drug-Response
RCV000784752.11 Voriconazole response Drug-Response
RCV000784794.10 Voriconazole response Drug-Response
RCV000784797.10 Voriconazole response Drug-Response
RCV000784798.10 Voriconazole response Drug-Response
RCV000784803.10 Voriconazole response Drug-Response
RCV000784804.10 Voriconazole response Drug-Response
RCV000784825.10 Voriconazole response Drug-Response
RCV000784838.11 Voriconazole response Drug-Response
RCV000784839.10 Voriconazole response Drug-Response
RCV000784840.10 Voriconazole response Drug-Response
RCV000784842.10 Voriconazole response Drug-Response
RCV000784844.10 Voriconazole response Drug-Response
RCV000784848.10 Voriconazole response Drug-Response
RCV000784849.9 Voriconazole response Drug-Response
RCV000784858.10 Voriconazole response Drug-Response
RCV000784865.10 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= C G T
GRCh38.p14 chr 10 NC_000010.11:g.94775367= NC_000010.11:g.94775367A>C NC_000010.11:g.94775367A>G NC_000010.11:g.94775367A>T
GRCh37.p13 chr 10 NC_000010.10:g.96535124= NC_000010.10:g.96535124A>C NC_000010.10:g.96535124A>G NC_000010.10:g.96535124A>T
CYP2C19 RefSeqGene (LRG_584) NG_008384.3:g.17687= NG_008384.3:g.17687A>C NG_008384.3:g.17687A>G NG_008384.3:g.17687A>T
CYP2C19 transcript NM_000769.1:c.332-23= NM_000769.1:c.332-23A>C NM_000769.1:c.332-23A>G NM_000769.1:c.332-23A>T
CYP2C19 transcript NM_000769.4:c.332-23= NM_000769.4:c.332-23A>C NM_000769.4:c.332-23A>G NM_000769.4:c.332-23A>T
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#.

98 SubSNP, 24 Frequency, 280 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss20655379 Apr 05, 2004 (121)
2 EGP_SNPS ss28531424 Dec 02, 2004 (126)
3 BIOVENTURES ss32475255 May 24, 2005 (126)
4 ABI ss39843449 Mar 10, 2006 (126)
5 HUMANGENOME_JCVI ss97675646 Feb 05, 2009 (130)
6 ILLUMINA ss161036496 Dec 01, 2009 (131)
7 BL ss254534570 May 09, 2011 (134)
8 GMI ss280732362 May 04, 2012 (137)
9 PJP ss290909223 May 09, 2011 (134)
10 1000GENOMES ss336317594 May 09, 2011 (134)
11 ILLUMINA ss479193759 Sep 08, 2015 (146)
12 1000GENOMES ss491001629 May 04, 2012 (137)
13 CLINSEQ_SNP ss491629929 May 04, 2012 (137)
14 ILLUMINA ss533651891 Sep 08, 2015 (146)
15 TISHKOFF ss562142937 Apr 25, 2013 (138)
16 SSMP ss657184002 Apr 25, 2013 (138)
17 NHLBI-ESP ss712963970 Apr 25, 2013 (138)
18 EVA-GONL ss987804488 Aug 21, 2014 (142)
19 JMKIDD_LAB ss1067514940 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1077215407 Aug 21, 2014 (142)
21 1000GENOMES ss1338623580 Aug 21, 2014 (142)
22 DDI ss1426411118 Apr 01, 2015 (144)
23 EVA_GENOME_DK ss1575296722 Apr 01, 2015 (144)
24 EVA_FINRISK ss1584069476 Apr 01, 2015 (144)
25 EVA_DECODE ss1597477794 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1625196094 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1668190127 Apr 01, 2015 (144)
28 EVA_EXAC ss1690011806 Apr 01, 2015 (144)
29 EVA_MGP ss1711265768 Apr 01, 2015 (144)
30 WEILL_CORNELL_DGM ss1931170500 Feb 12, 2016 (147)
31 JJLAB ss2026313653 Sep 14, 2016 (149)
32 USC_VALOUEV ss2154590308 Nov 08, 2017 (151)
33 HUMAN_LONGEVITY ss2177148204 Dec 20, 2016 (150)
34 SYSTEMSBIOZJU ss2627625765 Nov 08, 2017 (151)
35 GRF ss2698843053 Nov 08, 2017 (151)
36 GNOMAD ss2738420674 Nov 08, 2017 (151)
37 GNOMAD ss2748441451 Nov 08, 2017 (151)
38 GNOMAD ss2892128012 Nov 08, 2017 (151)
39 SWEGEN ss3006966008 Nov 08, 2017 (151)
40 CSIRBIOHTS ss3029638023 Nov 08, 2017 (151)
41 CSHL ss3349261270 Nov 08, 2017 (151)
42 ILLUMINA ss3626509897 Oct 12, 2018 (152)
43 ILLUMINA ss3636102006 Oct 12, 2018 (152)
44 OMUKHERJEE_ADBS ss3646413620 Oct 12, 2018 (152)
45 URBANLAB ss3649441571 Oct 12, 2018 (152)
46 EGCUT_WGS ss3674378183 Jul 13, 2019 (153)
47 EVA_DECODE ss3690461892 Jul 13, 2019 (153)
48 ACPOP ss3737585575 Jul 13, 2019 (153)
49 EVA ss3748468380 Jul 13, 2019 (153)
50 KHV_HUMAN_GENOMES ss3813834537 Jul 13, 2019 (153)
51 EVA ss3824540912 Apr 26, 2020 (154)
52 EVA ss3832276845 Apr 26, 2020 (154)
53 EVA ss3839679568 Apr 26, 2020 (154)
54 EVA ss3845153234 Apr 26, 2020 (154)
55 SGDP_PRJ ss3874827570 Apr 26, 2020 (154)
56 KRGDB ss3922955726 Apr 26, 2020 (154)
57 KOGIC ss3968458385 Apr 26, 2020 (154)
58 FSA-LAB ss3983983376 Apr 26, 2021 (155)
59 TOPMED ss4862626865 Apr 26, 2021 (155)
60 TOMMO_GENOMICS ss6114201581 Nov 01, 2024 (157)
61 EVA ss6253826617 Nov 01, 2024 (157)
62 EVA ss6307410195 Nov 01, 2024 (157)
63 EVA ss6321979700 Nov 01, 2024 (157)
64 EVA ss6322395603 Nov 01, 2024 (157)
65 EVA ss6326442669 Nov 01, 2024 (157)
66 EVA ss6332060681 Nov 01, 2024 (157)
67 YEGNASUBRAMANIAN_LAB ss6343187299 Nov 01, 2024 (157)
68 EVA ss6349787539 Nov 01, 2024 (157)
69 KOGIC ss6382288972 Nov 01, 2024 (157)
70 EVA ss6404454506 Nov 01, 2024 (157)
71 GNOMAD ss6440423195 Nov 01, 2024 (157)
72 GNOMAD ss6859877976 Nov 01, 2024 (157)
73 TOMMO_GENOMICS ss8198969049 Nov 01, 2024 (157)
74 EVA ss8237481897 Nov 01, 2024 (157)
75 1000G_HIGH_COVERAGE ss8285087929 Nov 01, 2024 (157)
76 HUGCELL_USP ss8480547902 Nov 01, 2024 (157)
77 EVA ss8510129383 Nov 01, 2024 (157)
78 EVA ss8512473891 Nov 01, 2024 (157)
79 1000G_HIGH_COVERAGE ss8579564839 Nov 01, 2024 (157)
80 EVA ss8623950096 Nov 01, 2024 (157)
81 EVA ss8624011471 Nov 01, 2024 (157)
82 SANFORD_IMAGENETICS ss8624255702 Nov 01, 2024 (157)
83 SANFORD_IMAGENETICS ss8649885914 Nov 01, 2024 (157)
84 TOMMO_GENOMICS ss8745186759 Nov 01, 2024 (157)
85 EVA ss8800062046 Nov 01, 2024 (157)
86 EVA ss8800161205 Nov 01, 2024 (157)
87 YY_MCH ss8811792401 Nov 01, 2024 (157)
88 EVA ss8824807487 Nov 01, 2024 (157)
89 EVA ss8847378109 Nov 01, 2024 (157)
90 EVA ss8847605625 Nov 01, 2024 (157)
91 EVA ss8849697134 Nov 01, 2024 (157)
92 EVA ss8941172463 Nov 01, 2024 (157)
93 EVA ss8979335320 Nov 01, 2024 (157)
94 EVA ss8981430488 Nov 01, 2024 (157)
95 EVA ss8981728071 Nov 01, 2024 (157)
96 EVA ss8981728072 Nov 01, 2024 (157)
97 EVA ss8982040319 Nov 01, 2024 (157)
98 EVA ss8982151826 Nov 01, 2024 (157)
99 1000Genomes NC_000010.10 - 96535124 Oct 12, 2018 (152)
100 1000Genomes_30X NC_000010.11 - 94775367 Nov 01, 2024 (157)
101 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 96535124 Oct 12, 2018 (152)
102 Genetic variation in the Estonian population NC_000010.10 - 96535124 Oct 12, 2018 (152)
103 ExAC NC_000010.10 - 96535124 Oct 12, 2018 (152)
104 FINRISK NC_000010.10 - 96535124 Apr 26, 2020 (154)
105 The Danish reference pan genome NC_000010.10 - 96535124 Apr 26, 2020 (154)
106 gnomAD v4 - Exomes NC_000010.11 - 94775367 Nov 01, 2024 (157)
107 gnomAD v4 - Genomes NC_000010.11 - 94775367 Nov 01, 2024 (157)
108 GO Exome Sequencing Project NC_000010.10 - 96535124 Oct 12, 2018 (152)
109 Genome of the Netherlands Release 5 NC_000010.10 - 96535124 Apr 26, 2020 (154)
110 KOREAN population from KRGDB NC_000010.10 - 96535124 Apr 26, 2020 (154)
111 Korean Genome Project NC_000010.11 - 94775367 Apr 26, 2020 (154)
112 Korean Genome Project 4K NC_000010.11 - 94775367 Nov 01, 2024 (157)
113 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 96535124 Apr 26, 2020 (154)
114 Northern Sweden NC_000010.10 - 96535124 Jul 13, 2019 (153)
115 Qatari NC_000010.10 - 96535124 Apr 26, 2020 (154)
116 SGDP_PRJ NC_000010.10 - 96535124 Apr 26, 2020 (154)
117 Siberian NC_000010.10 - 96535124 Apr 26, 2020 (154)
118 38KJPN NC_000010.11 - 94775367 Nov 01, 2024 (157)
119 TopMed NC_000010.11 - 94775367 Apr 26, 2021 (155)
120 UK 10K study - Twins NC_000010.10 - 96535124 Oct 12, 2018 (152)
121 A Vietnamese Genetic Variation Database NC_000010.10 - 96535124 Jul 13, 2019 (153)
122 ALFA NC_000010.11 - 94775367 Nov 01, 2024 (157)
123 ClinVar RCV000782431.10 Nov 01, 2024 (157)
124 ClinVar RCV000782440.10 Nov 01, 2024 (157)
125 ClinVar RCV000782448.11 Nov 01, 2024 (157)
126 ClinVar RCV000782449.10 Nov 01, 2024 (157)
127 ClinVar RCV000782450.9 Nov 01, 2024 (157)
128 ClinVar RCV000782451.10 Nov 01, 2024 (157)
129 ClinVar RCV000782452.10 Nov 01, 2024 (157)
130 ClinVar RCV000782453.10 Nov 01, 2024 (157)
131 ClinVar RCV000782488.10 Nov 01, 2024 (157)
132 ClinVar RCV000782489.10 Nov 01, 2024 (157)
133 ClinVar RCV000782498.10 Nov 01, 2024 (157)
134 ClinVar RCV000782499.10 Nov 01, 2024 (157)
135 ClinVar RCV000782504.10 Nov 01, 2024 (157)
136 ClinVar RCV000782508.11 Nov 01, 2024 (157)
137 ClinVar RCV000782509.11 Nov 01, 2024 (157)
138 ClinVar RCV000782513.10 Nov 01, 2024 (157)
139 ClinVar RCV000782514.11 Nov 01, 2024 (157)
140 ClinVar RCV000782515.11 Nov 01, 2024 (157)
141 ClinVar RCV000782516.10 Nov 01, 2024 (157)
142 ClinVar RCV000782517.10 Nov 01, 2024 (157)
143 ClinVar RCV000782518.10 Nov 01, 2024 (157)
144 ClinVar RCV000782519.10 Nov 01, 2024 (157)
145 ClinVar RCV000782629.10 Nov 01, 2024 (157)
146 ClinVar RCV000782630.10 Nov 01, 2024 (157)
147 ClinVar RCV000782634.10 Nov 01, 2024 (157)
148 ClinVar RCV000782635.10 Nov 01, 2024 (157)
149 ClinVar RCV000782636.10 Nov 01, 2024 (157)
150 ClinVar RCV000782637.10 Nov 01, 2024 (157)
151 ClinVar RCV000782638.10 Nov 01, 2024 (157)
152 ClinVar RCV000782639.10 Nov 01, 2024 (157)
153 ClinVar RCV000782640.10 Nov 01, 2024 (157)
154 ClinVar RCV000782642.10 Nov 01, 2024 (157)
155 ClinVar RCV000782643.10 Nov 01, 2024 (157)
156 ClinVar RCV000782644.10 Nov 01, 2024 (157)
157 ClinVar RCV000782690.10 Nov 01, 2024 (157)
158 ClinVar RCV000782691.10 Nov 01, 2024 (157)
159 ClinVar RCV000782692.10 Nov 01, 2024 (157)
160 ClinVar RCV000782693.10 Nov 01, 2024 (157)
161 ClinVar RCV000782694.10 Nov 01, 2024 (157)
162 ClinVar RCV000782695.10 Nov 01, 2024 (157)
163 ClinVar RCV000782696.10 Nov 01, 2024 (157)
164 ClinVar RCV000782697.9 Nov 01, 2024 (157)
165 ClinVar RCV000782698.10 Nov 01, 2024 (157)
166 ClinVar RCV000782699.10 Nov 01, 2024 (157)
167 ClinVar RCV000782700.10 Nov 01, 2024 (157)
168 ClinVar RCV000782705.10 Nov 01, 2024 (157)
169 ClinVar RCV000782706.10 Nov 01, 2024 (157)
170 ClinVar RCV000782709.10 Nov 01, 2024 (157)
171 ClinVar RCV000782710.10 Nov 01, 2024 (157)
172 ClinVar RCV000782720.9 Nov 01, 2024 (157)
173 ClinVar RCV000782721.9 Nov 01, 2024 (157)
174 ClinVar RCV000782730.10 Nov 01, 2024 (157)
175 ClinVar RCV000782731.10 Nov 01, 2024 (157)
176 ClinVar RCV000782738.10 Nov 01, 2024 (157)
177 ClinVar RCV000782739.10 Nov 01, 2024 (157)
178 ClinVar RCV000782744.10 Nov 01, 2024 (157)
179 ClinVar RCV000782745.10 Nov 01, 2024 (157)
180 ClinVar RCV000782757.10 Nov 01, 2024 (157)
181 ClinVar RCV000782758.10 Nov 01, 2024 (157)
182 ClinVar RCV000782808.10 Nov 01, 2024 (157)
183 ClinVar RCV000782880.10 Nov 01, 2024 (157)
184 ClinVar RCV000782881.10 Nov 01, 2024 (157)
185 ClinVar RCV000782882.10 Nov 01, 2024 (157)
186 ClinVar RCV000782883.10 Nov 01, 2024 (157)
187 ClinVar RCV000782884.10 Nov 01, 2024 (157)
188 ClinVar RCV000782885.10 Nov 01, 2024 (157)
189 ClinVar RCV000782886.10 Nov 01, 2024 (157)
190 ClinVar RCV000782887.10 Nov 01, 2024 (157)
191 ClinVar RCV000782908.10 Nov 01, 2024 (157)
192 ClinVar RCV000782909.10 Nov 01, 2024 (157)
193 ClinVar RCV000782936.10 Nov 01, 2024 (157)
194 ClinVar RCV000782937.10 Nov 01, 2024 (157)
195 ClinVar RCV000782969.10 Nov 01, 2024 (157)
196 ClinVar RCV000782970.10 Nov 01, 2024 (157)
197 ClinVar RCV000782978.10 Nov 01, 2024 (157)
198 ClinVar RCV000782979.10 Nov 01, 2024 (157)
199 ClinVar RCV000783069.10 Nov 01, 2024 (157)
200 ClinVar RCV000783076.10 Nov 01, 2024 (157)
201 ClinVar RCV000783079.11 Nov 01, 2024 (157)
202 ClinVar RCV000783083.10 Nov 01, 2024 (157)
203 ClinVar RCV000783139.10 Nov 01, 2024 (157)
204 ClinVar RCV000783140.10 Nov 01, 2024 (157)
205 ClinVar RCV000783141.10 Nov 01, 2024 (157)
206 ClinVar RCV000783142.10 Nov 01, 2024 (157)
207 ClinVar RCV000783143.10 Nov 01, 2024 (157)
208 ClinVar RCV000783144.10 Nov 01, 2024 (157)
209 ClinVar RCV000783145.10 Nov 01, 2024 (157)
210 ClinVar RCV000783171.10 Nov 01, 2024 (157)
211 ClinVar RCV000783172.10 Nov 01, 2024 (157)
212 ClinVar RCV000783173.10 Nov 01, 2024 (157)
213 ClinVar RCV000783174.10 Nov 01, 2024 (157)
214 ClinVar RCV000783175.10 Nov 01, 2024 (157)
215 ClinVar RCV000783177.10 Nov 01, 2024 (157)
216 ClinVar RCV000783182.11 Nov 01, 2024 (157)
217 ClinVar RCV000783186.9 Nov 01, 2024 (157)
218 ClinVar RCV000783194.10 Nov 01, 2024 (157)
219 ClinVar RCV000783199.10 Nov 01, 2024 (157)
220 ClinVar RCV000783205.10 Nov 01, 2024 (157)
221 ClinVar RCV000783231.10 Nov 01, 2024 (157)
222 ClinVar RCV000783269.10 Nov 01, 2024 (157)
223 ClinVar RCV000783270.10 Nov 01, 2024 (157)
224 ClinVar RCV000783283.10 Nov 01, 2024 (157)
225 ClinVar RCV000783297.10 Nov 01, 2024 (157)
226 ClinVar RCV000783313.10 Nov 01, 2024 (157)
227 ClinVar RCV000783317.10 Nov 01, 2024 (157)
228 ClinVar RCV000783380.10 Nov 01, 2024 (157)
229 ClinVar RCV000783392.10 Nov 01, 2024 (157)
230 ClinVar RCV000783415.10 Nov 01, 2024 (157)
231 ClinVar RCV000783416.10 Nov 01, 2024 (157)
232 ClinVar RCV000783417.10 Nov 01, 2024 (157)
233 ClinVar RCV000783418.10 Nov 01, 2024 (157)
234 ClinVar RCV000783444.10 Nov 01, 2024 (157)
235 ClinVar RCV000783448.10 Nov 01, 2024 (157)
236 ClinVar RCV000783455.10 Nov 01, 2024 (157)
237 ClinVar RCV000783460.10 Nov 01, 2024 (157)
238 ClinVar RCV000783464.10 Nov 01, 2024 (157)
239 ClinVar RCV000783500.10 Nov 01, 2024 (157)
240 ClinVar RCV000783504.10 Nov 01, 2024 (157)
241 ClinVar RCV000783508.10 Nov 01, 2024 (157)
242 ClinVar RCV000783511.10 Nov 01, 2024 (157)
243 ClinVar RCV000783514.10 Nov 01, 2024 (157)
244 ClinVar RCV000783515.10 Nov 01, 2024 (157)
245 ClinVar RCV000783518.10 Nov 01, 2024 (157)
246 ClinVar RCV000783571.10 Nov 01, 2024 (157)
247 ClinVar RCV000783574.10 Nov 01, 2024 (157)
248 ClinVar RCV000783575.10 Nov 01, 2024 (157)
249 ClinVar RCV000783576.10 Nov 01, 2024 (157)
250 ClinVar RCV000783577.10 Nov 01, 2024 (157)
251 ClinVar RCV000783578.10 Nov 01, 2024 (157)
252 ClinVar RCV000783613.10 Nov 01, 2024 (157)
253 ClinVar RCV000783614.10 Nov 01, 2024 (157)
254 ClinVar RCV000783615.10 Nov 01, 2024 (157)
255 ClinVar RCV000783616.9 Nov 01, 2024 (157)
256 ClinVar RCV000783617.10 Nov 01, 2024 (157)
257 ClinVar RCV000783618.10 Nov 01, 2024 (157)
258 ClinVar RCV000783619.10 Nov 01, 2024 (157)
259 ClinVar RCV000783620.10 Nov 01, 2024 (157)
260 ClinVar RCV000783627.11 Nov 01, 2024 (157)
261 ClinVar RCV000783630.10 Nov 01, 2024 (157)
262 ClinVar RCV000783641.10 Nov 01, 2024 (157)
263 ClinVar RCV000783646.10 Nov 01, 2024 (157)
264 ClinVar RCV000783648.10 Nov 01, 2024 (157)
265 ClinVar RCV000783666.11 Nov 01, 2024 (157)
266 ClinVar RCV000783672.10 Nov 01, 2024 (157)
267 ClinVar RCV000783673.10 Nov 01, 2024 (157)
268 ClinVar RCV000783712.10 Nov 01, 2024 (157)
269 ClinVar RCV000783719.10 Nov 01, 2024 (157)
270 ClinVar RCV000783728.10 Nov 01, 2024 (157)
271 ClinVar RCV000783733.10 Nov 01, 2024 (157)
272 ClinVar RCV000783734.10 Nov 01, 2024 (157)
273 ClinVar RCV000783737.10 Nov 01, 2024 (157)
274 ClinVar RCV000783738.10 Nov 01, 2024 (157)
275 ClinVar RCV000783739.10 Nov 01, 2024 (157)
276 ClinVar RCV000783740.10 Nov 01, 2024 (157)
277 ClinVar RCV000783741.10 Nov 01, 2024 (157)
278 ClinVar RCV000783742.10 Nov 01, 2024 (157)
279 ClinVar RCV000783743.10 Nov 01, 2024 (157)
280 ClinVar RCV000783747.10 Nov 01, 2024 (157)
281 ClinVar RCV000783748.10 Nov 01, 2024 (157)
282 ClinVar RCV000783858.10 Nov 01, 2024 (157)
283 ClinVar RCV000783859.10 Nov 01, 2024 (157)
284 ClinVar RCV000783862.10 Nov 01, 2024 (157)
285 ClinVar RCV000783863.10 Nov 01, 2024 (157)
286 ClinVar RCV000783864.10 Nov 01, 2024 (157)
287 ClinVar RCV000783865.10 Nov 01, 2024 (157)
288 ClinVar RCV000783866.10 Nov 01, 2024 (157)
289 ClinVar RCV000783867.10 Nov 01, 2024 (157)
290 ClinVar RCV000783868.10 Nov 01, 2024 (157)
291 ClinVar RCV000783876.10 Nov 01, 2024 (157)
292 ClinVar RCV000783920.10 Nov 01, 2024 (157)
293 ClinVar RCV000783921.10 Nov 01, 2024 (157)
294 ClinVar RCV000783922.11 Nov 01, 2024 (157)
295 ClinVar RCV000783923.11 Nov 01, 2024 (157)
296 ClinVar RCV000783924.10 Nov 01, 2024 (157)
297 ClinVar RCV000783925.9 Nov 01, 2024 (157)
298 ClinVar RCV000783926.10 Nov 01, 2024 (157)
299 ClinVar RCV000783927.10 Nov 01, 2024 (157)
300 ClinVar RCV000783928.10 Nov 01, 2024 (157)
301 ClinVar RCV000783929.10 Nov 01, 2024 (157)
302 ClinVar RCV000783930.10 Nov 01, 2024 (157)
303 ClinVar RCV000783931.10 Nov 01, 2024 (157)
304 ClinVar RCV000783932.10 Nov 01, 2024 (157)
305 ClinVar RCV000783935.10 Nov 01, 2024 (157)
306 ClinVar RCV000783936.10 Nov 01, 2024 (157)
307 ClinVar RCV000783948.11 Nov 01, 2024 (157)
308 ClinVar RCV000783949.11 Nov 01, 2024 (157)
309 ClinVar RCV000783979.10 Nov 01, 2024 (157)
310 ClinVar RCV000783980.10 Nov 01, 2024 (157)
311 ClinVar RCV000784040.10 Nov 01, 2024 (157)
312 ClinVar RCV000784065.10 Nov 01, 2024 (157)
313 ClinVar RCV000784066.10 Nov 01, 2024 (157)
314 ClinVar RCV000784107.10 Nov 01, 2024 (157)
315 ClinVar RCV000784108.10 Nov 01, 2024 (157)
316 ClinVar RCV000784109.10 Nov 01, 2024 (157)
317 ClinVar RCV000784110.10 Nov 01, 2024 (157)
318 ClinVar RCV000784111.10 Nov 01, 2024 (157)
319 ClinVar RCV000784112.10 Nov 01, 2024 (157)
320 ClinVar RCV000784113.10 Nov 01, 2024 (157)
321 ClinVar RCV000784114.10 Nov 01, 2024 (157)
322 ClinVar RCV000784115.10 Nov 01, 2024 (157)
323 ClinVar RCV000784116.10 Nov 01, 2024 (157)
324 ClinVar RCV000784117.10 Nov 01, 2024 (157)
325 ClinVar RCV000784118.10 Nov 01, 2024 (157)
326 ClinVar RCV000784180.10 Nov 01, 2024 (157)
327 ClinVar RCV000784181.10 Nov 01, 2024 (157)
328 ClinVar RCV000784196.10 Nov 01, 2024 (157)
329 ClinVar RCV000784197.10 Nov 01, 2024 (157)
330 ClinVar RCV000784205.10 Nov 01, 2024 (157)
331 ClinVar RCV000784206.10 Nov 01, 2024 (157)
332 ClinVar RCV000784211.10 Nov 01, 2024 (157)
333 ClinVar RCV000784212.10 Nov 01, 2024 (157)
334 ClinVar RCV000784302.10 Nov 01, 2024 (157)
335 ClinVar RCV000784307.10 Nov 01, 2024 (157)
336 ClinVar RCV000784310.10 Nov 01, 2024 (157)
337 ClinVar RCV000784311.10 Nov 01, 2024 (157)
338 ClinVar RCV000784312.10 Nov 01, 2024 (157)
339 ClinVar RCV000784313.10 Nov 01, 2024 (157)
340 ClinVar RCV000784314.10 Nov 01, 2024 (157)
341 ClinVar RCV000784315.11 Nov 01, 2024 (157)
342 ClinVar RCV000784316.10 Nov 01, 2024 (157)
343 ClinVar RCV000784317.10 Nov 01, 2024 (157)
344 ClinVar RCV000784371.10 Nov 01, 2024 (157)
345 ClinVar RCV000784374.10 Nov 01, 2024 (157)
346 ClinVar RCV000784380.10 Nov 01, 2024 (157)
347 ClinVar RCV000784381.10 Nov 01, 2024 (157)
348 ClinVar RCV000784402.10 Nov 01, 2024 (157)
349 ClinVar RCV000784403.11 Nov 01, 2024 (157)
350 ClinVar RCV000784404.10 Nov 01, 2024 (157)
351 ClinVar RCV000784405.10 Nov 01, 2024 (157)
352 ClinVar RCV000784406.10 Nov 01, 2024 (157)
353 ClinVar RCV000784407.10 Nov 01, 2024 (157)
354 ClinVar RCV000784408.9 Nov 01, 2024 (157)
355 ClinVar RCV000784409.10 Nov 01, 2024 (157)
356 ClinVar RCV000784413.10 Nov 01, 2024 (157)
357 ClinVar RCV000784423.10 Nov 01, 2024 (157)
358 ClinVar RCV000784430.10 Nov 01, 2024 (157)
359 ClinVar RCV000784480.10 Nov 01, 2024 (157)
360 ClinVar RCV000784498.10 Nov 01, 2024 (157)
361 ClinVar RCV000784499.10 Nov 01, 2024 (157)
362 ClinVar RCV000784500.10 Nov 01, 2024 (157)
363 ClinVar RCV000784501.10 Nov 01, 2024 (157)
364 ClinVar RCV000784502.10 Nov 01, 2024 (157)
365 ClinVar RCV000784503.10 Nov 01, 2024 (157)
366 ClinVar RCV000784504.10 Nov 01, 2024 (157)
367 ClinVar RCV000784505.10 Nov 01, 2024 (157)
368 ClinVar RCV000784538.10 Nov 01, 2024 (157)
369 ClinVar RCV000784547.10 Nov 01, 2024 (157)
370 ClinVar RCV000784551.10 Nov 01, 2024 (157)
371 ClinVar RCV000784553.10 Nov 01, 2024 (157)
372 ClinVar RCV000784648.10 Nov 01, 2024 (157)
373 ClinVar RCV000784649.10 Nov 01, 2024 (157)
374 ClinVar RCV000784650.10 Nov 01, 2024 (157)
375 ClinVar RCV000784651.10 Nov 01, 2024 (157)
376 ClinVar RCV000784652.10 Nov 01, 2024 (157)
377 ClinVar RCV000784653.10 Nov 01, 2024 (157)
378 ClinVar RCV000784663.10 Nov 01, 2024 (157)
379 ClinVar RCV000784698.10 Nov 01, 2024 (157)
380 ClinVar RCV000784700.10 Nov 01, 2024 (157)
381 ClinVar RCV000784744.10 Nov 01, 2024 (157)
382 ClinVar RCV000784745.11 Nov 01, 2024 (157)
383 ClinVar RCV000784748.10 Nov 01, 2024 (157)
384 ClinVar RCV000784749.10 Nov 01, 2024 (157)
385 ClinVar RCV000784750.10 Nov 01, 2024 (157)
386 ClinVar RCV000784751.10 Nov 01, 2024 (157)
387 ClinVar RCV000784752.11 Nov 01, 2024 (157)
388 ClinVar RCV000784794.10 Nov 01, 2024 (157)
389 ClinVar RCV000784797.10 Nov 01, 2024 (157)
390 ClinVar RCV000784798.10 Nov 01, 2024 (157)
391 ClinVar RCV000784803.10 Nov 01, 2024 (157)
392 ClinVar RCV000784804.10 Nov 01, 2024 (157)
393 ClinVar RCV000784825.10 Nov 01, 2024 (157)
394 ClinVar RCV000784838.11 Nov 01, 2024 (157)
395 ClinVar RCV000784839.10 Nov 01, 2024 (157)
396 ClinVar RCV000784840.10 Nov 01, 2024 (157)
397 ClinVar RCV000784842.10 Nov 01, 2024 (157)
398 ClinVar RCV000784844.10 Nov 01, 2024 (157)
399 ClinVar RCV000784848.10 Nov 01, 2024 (157)
400 ClinVar RCV000784849.9 Nov 01, 2024 (157)
401 ClinVar RCV000784858.10 Nov 01, 2024 (157)
402 ClinVar RCV000784865.10 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).

Associated ID History Updated (Build)
rs17882787 Mar 10, 2006 (126)
rs28969424 Mar 10, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss8512473891 NC_000010.10:96535123:A:C NC_000010.11:94775366:A:C (self)
ss254534570, ss280732362, ss290909223, ss491629929, ss1597477794 NC_000010.9:96525113:A:G NC_000010.11:94775366:A:G (self)
51055007, 28345640, 20116431, 241436, 65937, 2282747, 998595, 12639353, 30133120, 381528, 10870440, 13212430, 26844550, 7106662, 28345640, 6294397, ss336317594, ss479193759, ss491001629, ss533651891, ss562142937, ss657184002, ss712963970, ss987804488, ss1067514940, ss1077215407, ss1338623580, ss1426411118, ss1575296722, ss1584069476, ss1625196094, ss1668190127, ss1690011806, ss1711265768, ss1931170500, ss2026313653, ss2154590308, ss2627625765, ss2698843053, ss2738420674, ss2748441451, ss2892128012, ss3006966008, ss3029638023, ss3349261270, ss3626509897, ss3636102006, ss3646413620, ss3674378183, ss3737585575, ss3748468380, ss3824540912, ss3832276845, ss3839679568, ss3874827570, ss3922955726, ss3983983376, ss6253826617, ss6307410195, ss6322395603, ss6326442669, ss6332060681, ss6343187299, ss6349787539, ss6404454506, ss8198969049, ss8237481897, ss8510129383, ss8512473891, ss8623950096, ss8624011471, ss8624255702, ss8649885914, ss8800062046, ss8800161205, ss8824807487, ss8847378109, ss8847605625, ss8941172463, ss8979335320, ss8981430488, ss8981728071, ss8981728072, ss8982151826 NC_000010.10:96535123:A:G NC_000010.11:94775366:A:G (self)
RCV000782431.10, RCV000782440.10, RCV000782448.11, RCV000782449.10, RCV000782450.9, RCV000782451.10, RCV000782452.10, RCV000782453.10, RCV000782488.10, RCV000782489.10, RCV000782498.10, RCV000782499.10, RCV000782504.10, RCV000782508.11, RCV000782509.11, RCV000782513.10, RCV000782514.11, RCV000782515.11, RCV000782516.10, RCV000782517.10, RCV000782518.10, RCV000782519.10, RCV000782629.10, RCV000782630.10, RCV000782634.10, RCV000782635.10, RCV000782636.10, RCV000782637.10, RCV000782638.10, RCV000782639.10, RCV000782640.10, RCV000782642.10, RCV000782643.10, RCV000782644.10, RCV000782690.10, RCV000782691.10, RCV000782692.10, RCV000782693.10, RCV000782694.10, RCV000782695.10, RCV000782696.10, RCV000782697.9, RCV000782698.10, RCV000782699.10, RCV000782700.10, RCV000782705.10, RCV000782706.10, RCV000782709.10, RCV000782710.10, RCV000782720.9, RCV000782721.9, RCV000782730.10, RCV000782731.10, RCV000782738.10, RCV000782739.10, RCV000782744.10, RCV000782745.10, RCV000782757.10, RCV000782758.10, RCV000782808.10, RCV000782880.10, RCV000782881.10, RCV000782882.10, RCV000782883.10, RCV000782884.10, RCV000782885.10, RCV000782886.10, RCV000782887.10, RCV000782908.10, RCV000782909.10, RCV000782936.10, RCV000782937.10, RCV000782969.10, RCV000782970.10, RCV000782978.10, RCV000782979.10, RCV000783069.10, RCV000783076.10, RCV000783079.11, RCV000783083.10, RCV000783139.10, RCV000783140.10, RCV000783141.10, RCV000783142.10, RCV000783143.10, RCV000783144.10, RCV000783145.10, RCV000783171.10, RCV000783172.10, RCV000783173.10, RCV000783174.10, RCV000783175.10, RCV000783177.10, RCV000783182.11, RCV000783186.9, RCV000783194.10, RCV000783199.10, RCV000783205.10, RCV000783231.10, RCV000783269.10, RCV000783270.10, RCV000783283.10, RCV000783297.10, RCV000783313.10, RCV000783317.10, RCV000783380.10, RCV000783392.10, RCV000783415.10, RCV000783416.10, RCV000783417.10, RCV000783418.10, RCV000783444.10, RCV000783448.10, RCV000783455.10, RCV000783460.10, RCV000783464.10, RCV000783500.10, RCV000783504.10, RCV000783508.10, RCV000783511.10, RCV000783514.10, RCV000783515.10, RCV000783518.10, RCV000783571.10, RCV000783574.10, RCV000783575.10, RCV000783576.10, RCV000783577.10, RCV000783578.10, RCV000783613.10, RCV000783614.10, RCV000783615.10, RCV000783616.9, RCV000783617.10, RCV000783618.10, RCV000783619.10, RCV000783620.10, RCV000783627.11, RCV000783630.10, RCV000783641.10, RCV000783646.10, RCV000783648.10, RCV000783666.11, RCV000783672.10, RCV000783673.10, RCV000783712.10, RCV000783719.10, RCV000783728.10, RCV000783733.10, RCV000783734.10, RCV000783737.10, RCV000783738.10, RCV000783739.10, RCV000783740.10, RCV000783741.10, RCV000783742.10, RCV000783743.10, RCV000783747.10, RCV000783748.10, RCV000783858.10, RCV000783859.10, RCV000783862.10, RCV000783863.10, RCV000783864.10, RCV000783865.10, RCV000783866.10, RCV000783867.10, RCV000783868.10, RCV000783876.10, RCV000783920.10, RCV000783921.10, RCV000783922.11, RCV000783923.11, RCV000783924.10, RCV000783925.9, RCV000783926.10, RCV000783927.10, RCV000783928.10, RCV000783929.10, RCV000783930.10, RCV000783931.10, RCV000783932.10, RCV000783935.10, RCV000783936.10, RCV000783948.11, RCV000783949.11, RCV000783979.10, RCV000783980.10, RCV000784040.10, RCV000784065.10, RCV000784066.10, RCV000784107.10, RCV000784108.10, RCV000784109.10, RCV000784110.10, RCV000784111.10, RCV000784112.10, RCV000784113.10, RCV000784114.10, RCV000784115.10, RCV000784116.10, RCV000784117.10, RCV000784118.10, RCV000784180.10, RCV000784181.10, RCV000784196.10, RCV000784197.10, RCV000784205.10, RCV000784206.10, RCV000784211.10, RCV000784212.10, RCV000784302.10, RCV000784307.10, RCV000784310.10, RCV000784311.10, RCV000784312.10, RCV000784313.10, RCV000784314.10, RCV000784315.11, RCV000784316.10, RCV000784317.10, RCV000784371.10, RCV000784374.10, RCV000784380.10, RCV000784381.10, RCV000784402.10, RCV000784403.11, RCV000784404.10, RCV000784405.10, RCV000784406.10, RCV000784407.10, RCV000784408.9, RCV000784409.10, RCV000784413.10, RCV000784423.10, RCV000784430.10, RCV000784480.10, RCV000784498.10, RCV000784499.10, RCV000784500.10, RCV000784501.10, RCV000784502.10, RCV000784503.10, RCV000784504.10, RCV000784505.10, RCV000784538.10, RCV000784547.10, RCV000784551.10, RCV000784553.10, RCV000784648.10, RCV000784649.10, RCV000784650.10, RCV000784651.10, RCV000784652.10, RCV000784653.10, RCV000784663.10, RCV000784698.10, RCV000784700.10, RCV000784744.10, RCV000784745.11, RCV000784748.10, RCV000784749.10, RCV000784750.10, RCV000784751.10, RCV000784752.11, RCV000784794.10, RCV000784797.10, RCV000784798.10, RCV000784803.10, RCV000784804.10, RCV000784825.10, RCV000784838.11, RCV000784839.10, RCV000784840.10, RCV000784842.10, RCV000784844.10, RCV000784848.10, RCV000784849.9, RCV000784858.10, RCV000784865.10, 67090774, 35745034, 387013721, 24836386, 32140870, 131577401, 78172520, 12823604516, ss2177148204, ss3649441571, ss3690461892, ss3813834537, ss3845153234, ss3968458385, ss4862626865, ss6114201581, ss6321979700, ss6382288972, ss6440423195, ss6859877976, ss8285087929, ss8480547902, ss8579564839, ss8745186759, ss8811792401, ss8849697134, ss8982040319 NC_000010.11:94775366:A:G NC_000010.11:94775366:A:G (self)
ss20655379 NT_030059.11:15283649:A:G NC_000010.11:94775366:A:G (self)
ss28531424, ss32475255, ss39843449, ss97675646, ss161036496 NT_030059.13:47339587:A:G NC_000010.11:94775366:A:G (self)
ss8512473891 NC_000010.10:96535123:A:T NC_000010.11:94775366: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.

9 citations for rs12769205
PMID Title Author Year Journal
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
21358751 Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness. Scott SA et al. 2012 The pharmacogenomics journal
26021325 The CYP2C19 Intron 2 Branch Point SNP is the Ancestral Polymorphism Contributing to the Poor Metabolizer Phenotype in Livers with CYP2C19*35 and CYP2C19*2 Alleles. Chaudhry AS et al. 2015 Drug metabolism and disposition
26858644 Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling. Chua EW et al. 2016 Frontiers in pharmacology
29121990 Identification of functional single nucleotide polymorphisms in the branchpoint site. Chiang HL et al. 2017 Human genomics
34621165 Lack of Major Involvement of Common CYP2C Gene Polymorphisms in the Risk of Developing Cross-Hypersensitivity to NSAIDs. Macías Y et al. 2021 Frontiers in 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
35646073 SLC4A4, FRAS1, and SULT1A1 Genetic Variations Associated With Dabigatran Metabolism in a Healthy Chinese Population. Xie Q et al. 2022 Frontiers in genetics
36453946 Genetic variations in relation to bleeding and pharmacodynamics of dabigatran in Chinese patients with nonvalvular atrial fibrillation: A nationwide multicentre prospective cohort study. Xiang Q et al. 2022 Clinical and translational medicine
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
Top▲ 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.

Software version is: 2.0.1.post825+45319f0