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.
rs1057910
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr10:94981296 (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
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.064700 (19529/301838, ALFA)C=0.063706 (7725/121260, ExAC)C=0.02428 (686/28258, 14KJPN) (+ 22 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYP2C9 : Missense Variant
- Publications
- 284 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 318334 | A=0.936111 | C=0.063889, G=0.000000 |
European | Sub | 265006 | A=0.933345 | C=0.066655, G=0.000000 |
African | Sub | 14506 | A=0.98773 | C=0.01227, G=0.00000 |
African Others | Sub | 518 | A=0.998 | C=0.002, G=0.000 |
African American | Sub | 13988 | A=0.98735 | C=0.01265, G=0.00000 |
Asian | Sub | 6754 | A=0.9550 | C=0.0450, G=0.0000 |
East Asian | Sub | 4858 | A=0.9564 | C=0.0436, G=0.0000 |
Other Asian | Sub | 1896 | A=0.9515 | C=0.0485, G=0.0000 |
Latin American 1 | Sub | 1000 | A=0.940 | C=0.060, G=0.000 |
Latin American 2 | Sub | 5806 | A=0.9607 | C=0.0393, G=0.0000 |
South Asian | Sub | 5136 | A=0.8853 | C=0.1147, G=0.0000 |
Other | Sub | 20126 | A=0.93466 | C=0.06534, G=0.00000 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
Allele Frequency Aggregator | Total | Global | 301838 | A=0.935300 | C=0.064700, G=0.000000 |
Allele Frequency Aggregator | European | Sub | 254800 | A=0.933308 | C=0.066692, G=0.000000 |
Allele Frequency Aggregator | Other | Sub | 18674 | A=0.93403 | C=0.06597, G=0.00000 |
Allele Frequency Aggregator | African | Sub | 9668 | A=0.9873 | C=0.0127, G=0.0000 |
Allele Frequency Aggregator | Asian | Sub | 6754 | A=0.9550 | C=0.0450, G=0.0000 |
Allele Frequency Aggregator | Latin American 2 | Sub | 5806 | A=0.9607 | C=0.0393, G=0.0000 |
Allele Frequency Aggregator | South Asian | Sub | 5136 | A=0.8853 | C=0.1147, G=0.0000 |
Allele Frequency Aggregator | Latin American 1 | Sub | 1000 | A=0.940 | C=0.060, G=0.000 |
ExAC | Global | Study-wide | 121260 | A=0.936294 | C=0.063706 |
ExAC | Europe | Sub | 73314 | A=0.93230 | C=0.06770 |
ExAC | Asian | Sub | 25154 | A=0.91413 | C=0.08587 |
ExAC | American | Sub | 11480 | A=0.96420 | C=0.03580 |
ExAC | African | Sub | 10404 | A=0.98741 | C=0.01259 |
ExAC | Other | Sub | 908 | A=0.934 | C=0.066 |
14KJPN | JAPANESE | Study-wide | 28258 | A=0.97572 | C=0.02428 |
8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.97530 | C=0.02470 |
1000Genomes_30x | Global | Study-wide | 6404 | A=0.9542 | C=0.0458 |
1000Genomes_30x | African | Sub | 1786 | A=0.9983 | C=0.0017 |
1000Genomes_30x | Europe | Sub | 1266 | A=0.9313 | C=0.0687 |
1000Genomes_30x | South Asian | Sub | 1202 | A=0.8985 | C=0.1015 |
1000Genomes_30x | East Asian | Sub | 1170 | A=0.9650 | C=0.0350 |
1000Genomes_30x | American | Sub | 980 | A=0.959 | C=0.041 |
1000Genomes | Global | Study-wide | 5008 | A=0.9515 | C=0.0485 |
1000Genomes | African | Sub | 1322 | A=0.9977 | C=0.0023 |
1000Genomes | East Asian | Sub | 1008 | A=0.9663 | C=0.0337 |
1000Genomes | Europe | Sub | 1006 | A=0.9274 | C=0.0726 |
1000Genomes | South Asian | Sub | 978 | A=0.891 | C=0.109 |
1000Genomes | American | Sub | 694 | A=0.963 | C=0.037 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.9268 | C=0.0732 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.9367 | C=0.0633 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.9388 | C=0.0612 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.9587 | C=0.0413 |
PharmGKB Aggregated | Global | Study-wide | 2520 | A=0.9476 | C=0.0524 |
PharmGKB Aggregated | PA152211301 | Sub | 696 | A=0.953 | C=0.047 |
PharmGKB Aggregated | PA154394460 | Sub | 584 | A=0.938 | C=0.062 |
PharmGKB Aggregated | PA130478249 | Sub | 464 | A=0.966 | C=0.034 |
PharmGKB Aggregated | PA149566605 | Sub | 356 | A=0.952 | C=0.048 |
PharmGKB Aggregated | PA152209538 | Sub | 184 | A=0.918 | C=0.082 |
PharmGKB Aggregated | PA130443285 | Sub | 158 | A=0.924 | C=0.076 |
PharmGKB Aggregated | PA130491144 | Sub | 58 | A=0.98 | C=0.02 |
PharmGKB Aggregated | PA130491273 | Sub | 20 | A=0.90 | C=0.10 |
HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | A=0.9434 | C=0.0566 |
HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | A=0.955 | C=0.045 |
HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | A=0.903 | C=0.097 |
HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | A=0.934 | C=0.066 |
HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | A=0.916 | C=0.084 |
HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | A=1.000 | C=0.000 |
HGDP-CEPH-db Supplement 1 | America | Sub | 216 | A=0.986 | C=0.014 |
HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | A=0.94 | C=0.06 |
Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.9541 | C=0.0459 |
HapMap | Global | Study-wide | 1320 | A=0.9455 | C=0.0545 |
HapMap | American | Sub | 770 | A=0.932 | C=0.068 |
HapMap | Asian | Sub | 254 | A=0.965 | C=0.035 |
HapMap | Europe | Sub | 176 | A=0.938 | C=0.062 |
HapMap | African | Sub | 120 | A=1.000 | C=0.000 |
Genome-wide autozygosity in Daghestan | Global | Study-wide | 1126 | A=0.8712 | C=0.1288 |
Genome-wide autozygosity in Daghestan | Daghestan | Sub | 624 | A=0.827 | C=0.173 |
Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | A=0.944 | C=0.056 |
Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | A=0.877 | C=0.123 |
Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | A=0.963 | C=0.037 |
Genome-wide autozygosity in Daghestan | South Asian | Sub | 92 | A=0.93 | C=0.07 |
Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=0.89 | C=0.11 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.931 | C=0.069 |
CNV burdens in cranial meningiomas | Global | Study-wide | 764 | A=0.949 | C=0.051 |
CNV burdens in cranial meningiomas | CRM | Sub | 764 | A=0.949 | C=0.051 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | A=0.971 | C=0.029 |
Northern Sweden | ACPOP | Study-wide | 600 | A=0.915 | C=0.085 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.923 | C=0.077 |
FINRISK | Finnish from FINRISK project | Study-wide | 302 | A=0.934 | C=0.066 |
Qatari | Global | Study-wide | 216 | A=0.981 | C=0.019 |
SGDP_PRJ | Global | Study-wide | 80 | A=0.47 | C=0.53 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 74 | A=0.95 | C=0.05 |
Siberian | Global | Study-wide | 12 | A=0.42 | C=0.58 |
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Sequence name | Change |
---|---|
GRCh38.p14 chr 10 | NC_000010.11:g.94981296A>C |
GRCh38.p14 chr 10 | NC_000010.11:g.94981296A>G |
GRCh37.p13 chr 10 | NC_000010.10:g.96741053A>C |
GRCh37.p13 chr 10 | NC_000010.10:g.96741053A>G |
CYP2C9 RefSeqGene (LRG_1195) | NG_008385.2:g.48139A>C |
CYP2C9 RefSeqGene (LRG_1195) | NG_008385.2:g.48139A>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CYP2C9 transcript | NM_000771.4:c.1075A>C | I [ATT] > L [CTT] | Coding Sequence Variant |
cytochrome P450 2C9 | NP_000762.2:p.Ile359Leu | I (Ile) > L (Leu) | Missense Variant |
CYP2C9 transcript | NM_000771.4:c.1075A>G | I [ATT] > V [GTT] | Coding Sequence Variant |
cytochrome P450 2C9 | NP_000762.2:p.Ile359Val | I (Ile) > V (Val) | Missense Variant |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000150377.4 | Warfarin response | Drug-Response |
RCV000154312.4 | Warfarin response | Drug-Response |
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000008916.2 | Tolbutamide response | Drug-Response |
RCV000008917.5 | Warfarin response | Drug-Response |
RCV000008918.4 | Phenytoin response | Drug-Response |
RCV000008919.4 | Glipizide response | Drug-Response |
RCV000150378.4 | Warfarin response | Drug-Response |
RCV000339502.4 | not provided | Other |
RCV000787930.3 | Flurbiprofen response | Drug-Response |
RCV000788094.3 | Lesinurad response | Drug-Response |
RCV000788100.3 | Piroxicam response | Drug-Response |
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
Placement | A= | C | G |
---|---|---|---|
GRCh38.p14 chr 10 | NC_000010.11:g.94981296= | NC_000010.11:g.94981296A>C | NC_000010.11:g.94981296A>G |
GRCh37.p13 chr 10 | NC_000010.10:g.96741053= | NC_000010.10:g.96741053A>C | NC_000010.10:g.96741053A>G |
CYP2C9 RefSeqGene (LRG_1195) | NG_008385.2:g.48139= | NG_008385.2:g.48139A>C | NG_008385.2:g.48139A>G |
CYP2C9 transcript | NM_000771.4:c.1075= | NM_000771.4:c.1075A>C | NM_000771.4:c.1075A>G |
CYP2C9 transcript | NM_000771.3:c.1075= | NM_000771.3:c.1075A>C | NM_000771.3:c.1075A>G |
cytochrome P450 2C9 | NP_000762.2:p.Ile359= | NP_000762.2:p.Ile359Leu | NP_000762.2:p.Ile359Val |
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | LEE | ss1538933 | Oct 05, 2000 (86) |
2 | HGBASE | ss2419886 | Nov 14, 2000 (89) |
3 | LEE | ss4426472 | May 29, 2002 (106) |
4 | SNP500CANCER | ss5586419 | Mar 31, 2003 (113) |
5 | EGP_SNPS | ss12588583 | Dec 05, 2003 (119) |
6 | IMCJ-GDT | ss28501344 | Sep 24, 2004 (126) |
7 | BIOVENTURES | ss32475993 | May 24, 2005 (125) |
8 | ILLUMINA | ss66633834 | Nov 30, 2006 (127) |
9 | EGP_SNPS | ss66862440 | Nov 30, 2006 (127) |
10 | ILLUMINA | ss66896412 | Nov 30, 2006 (127) |
11 | ILLUMINA | ss67006369 | Nov 30, 2006 (127) |
12 | CSHL-HAPMAP | ss68421487 | Jan 12, 2007 (127) |
13 | PERLEGEN | ss69088153 | May 17, 2007 (127) |
14 | PHARMGKB_COBRA | ss69365624 | May 17, 2007 (127) |
15 | PHARMGKB_PAT | ss69366288 | May 17, 2007 (127) |
16 | PHARMGKB_COBRA | ss69366432 | May 17, 2007 (127) |
17 | PHARMGKB_COBRA | ss69367461 | May 17, 2007 (127) |
18 | ILLUMINA | ss70377003 | May 17, 2007 (127) |
19 | ILLUMINA | ss70492465 | May 26, 2008 (130) |
20 | ILLUMINA | ss71017148 | May 17, 2007 (127) |
21 | ILLUMINA | ss75526698 | Dec 07, 2007 (129) |
22 | SI_EXO | ss76884483 | Dec 07, 2007 (129) |
23 | CCHMC-CAE-PGCORE | ss79314175 | Dec 16, 2007 (130) |
24 | KRIBB_YJKIM | ss83675538 | Dec 16, 2007 (130) |
25 | PHARMGKB_AB_DME | ss84158157 | Dec 16, 2007 (130) |
26 | PHARMGKB_PBAT | ss105107895 | Feb 06, 2009 (130) |
27 | PHARMGKB_PEAR | ss105108091 | Feb 06, 2009 (130) |
28 | PHARMGKB_PBAT | ss105109763 | Feb 06, 2009 (130) |
29 | ILLUMINA | ss121372691 | Dec 01, 2009 (131) |
30 | ILLUMINA | ss152795933 | Dec 01, 2009 (131) |
31 | ILLUMINA | ss159137280 | Dec 01, 2009 (131) |
32 | ILLUMINA | ss161109628 | Dec 01, 2009 (131) |
33 | ILLUMINA | ss169571265 | Jul 04, 2010 (132) |
34 | ILLUMINA | ss170390048 | Jul 04, 2010 (132) |
35 | BCM-HGSC-SUB | ss207372734 | Jul 04, 2010 (132) |
36 | 1000GENOMES | ss235293156 | Jul 15, 2010 (132) |
37 | 1000GENOMES | ss241976260 | Jul 15, 2010 (132) |
38 | OMICIA | ss244238827 | May 27, 2010 (132) |
39 | ILLUMINA | ss244269683 | Jul 04, 2010 (132) |
40 | OMIM-CURATED-RECORDS | ss256302165 | Aug 26, 2010 (132) |
41 | NHLBI-ESP | ss342304169 | May 09, 2011 (134) |
42 | ILLUMINA | ss410888155 | Sep 17, 2011 (135) |
43 | ILLUMINA | ss482693779 | May 04, 2012 (137) |
44 | ILLUMINA | ss483026418 | Sep 08, 2015 (146) |
45 | ILLUMINA | ss484045519 | May 04, 2012 (137) |
46 | 1000GENOMES | ss491001674 | May 04, 2012 (137) |
47 | EXOME_CHIP | ss491438637 | May 04, 2012 (137) |
48 | CLINSEQ_SNP | ss491629979 | May 04, 2012 (137) |
49 | ILLUMINA | ss536236827 | Sep 08, 2015 (146) |
50 | SSMP | ss657186290 | Apr 25, 2013 (138) |
51 | ILLUMINA | ss778683444 | Sep 08, 2015 (146) |
52 | ILLUMINA | ss780889011 | Sep 08, 2015 (146) |
53 | ILLUMINA | ss782467384 | Sep 08, 2015 (146) |
54 | ILLUMINA | ss783575257 | Sep 08, 2015 (146) |
55 | ILLUMINA | ss825346614 | Jul 19, 2016 (147) |
56 | ILLUMINA | ss832649940 | Jul 13, 2019 (153) |
57 | ILLUMINA | ss834142053 | Sep 08, 2015 (146) |
58 | JMKIDD_LAB | ss974475598 | Aug 21, 2014 (142) |
59 | EVA-GONL | ss987806381 | Aug 21, 2014 (142) |
60 | JMKIDD_LAB | ss1067514968 | Aug 21, 2014 (142) |
61 | JMKIDD_LAB | ss1077216799 | Aug 21, 2014 (142) |
62 | 1000GENOMES | ss1338631396 | Aug 21, 2014 (142) |
63 | HAMMER_LAB | ss1397589497 | Sep 08, 2015 (146) |
64 | EVA_FINRISK | ss1584069489 | Apr 01, 2015 (144) |
65 | EVA_DECODE | ss1597479676 | Apr 01, 2015 (144) |
66 | EVA_UK10K_ALSPAC | ss1625199581 | Apr 01, 2015 (144) |
67 | EVA_UK10K_TWINSUK | ss1668193614 | Apr 01, 2015 (144) |
68 | EVA_EXAC | ss1690012670 | Apr 01, 2015 (144) |
69 | EVA_MGP | ss1711265826 | Apr 01, 2015 (144) |
70 | EVA_SVP | ss1713202740 | Apr 01, 2015 (144) |
71 | ILLUMINA | ss1751988390 | Sep 08, 2015 (146) |
72 | ILLUMINA | ss1917849833 | Feb 12, 2016 (147) |
73 | WEILL_CORNELL_DGM | ss1931172559 | Feb 12, 2016 (147) |
74 | ILLUMINA | ss1946289814 | Feb 12, 2016 (147) |
75 | ILLUMINA | ss1959285055 | Feb 12, 2016 (147) |
76 | AMU | ss1966651107 | Feb 12, 2016 (147) |
77 | JJLAB | ss2026314474 | Sep 14, 2016 (149) |
78 | ILLUMINA | ss2094788887 | Dec 20, 2016 (150) |
79 | ILLUMINA | ss2095016478 | Dec 20, 2016 (150) |
80 | USC_VALOUEV | ss2154591212 | Nov 08, 2017 (151) |
81 | HUMAN_LONGEVITY | ss2177161303 | Dec 20, 2016 (150) |
82 | ILLUMINA | ss2632748535 | Nov 08, 2017 (151) |
83 | ILLUMINA | ss2632748536 | Nov 08, 2017 (151) |
84 | ILLUMINA | ss2632748537 | Nov 08, 2017 (151) |
85 | ILLUMINA | ss2632748538 | Nov 08, 2017 (151) |
86 | ILLUMINA | ss2635018036 | Nov 08, 2017 (151) |
87 | GRF | ss2698844101 | Nov 08, 2017 (151) |
88 | ILLUMINA | ss2710717613 | Nov 08, 2017 (151) |
89 | GNOMAD | ss2738421843 | Nov 08, 2017 (151) |
90 | GNOMAD | ss2748441781 | Nov 08, 2017 (151) |
91 | GNOMAD | ss2892149318 | Nov 08, 2017 (151) |
92 | AFFY | ss2984920017 | Nov 08, 2017 (151) |
93 | AFFY | ss2985568284 | Nov 08, 2017 (151) |
94 | SWEGEN | ss3006969228 | Nov 08, 2017 (151) |
95 | ILLUMINA | ss3021264956 | Nov 08, 2017 (151) |
96 | CSHL | ss3349262052 | Nov 08, 2017 (151) |
97 | ILLUMINA | ss3626510129 | Oct 12, 2018 (152) |
98 | ILLUMINA | ss3626510130 | Oct 12, 2018 (152) |
99 | ILLUMINA | ss3630771766 | Oct 12, 2018 (152) |
100 | ILLUMINA | ss3634417926 | Oct 12, 2018 (152) |
101 | ILLUMINA | ss3636102431 | Oct 12, 2018 (152) |
102 | ILLUMINA | ss3637867360 | Oct 12, 2018 (152) |
103 | ILLUMINA | ss3638949447 | Oct 12, 2018 (152) |
104 | ILLUMINA | ss3639474781 | Oct 12, 2018 (152) |
105 | ILLUMINA | ss3640125267 | Oct 12, 2018 (152) |
106 | ILLUMINA | ss3642869426 | Oct 12, 2018 (152) |
107 | ILLUMINA | ss3644542560 | Oct 12, 2018 (152) |
108 | BIOINF_KMB_FNS_UNIBA | ss3645156529 | Oct 12, 2018 (152) |
109 | OMUKHERJEE_ADBS | ss3646413639 | Oct 12, 2018 (152) |
110 | ILLUMINA | ss3651623380 | Oct 12, 2018 (152) |
111 | ILLUMINA | ss3651623381 | Oct 12, 2018 (152) |
112 | ILLUMINA | ss3653690753 | Oct 12, 2018 (152) |
113 | EGCUT_WGS | ss3674380916 | Jul 13, 2019 (153) |
114 | EVA_DECODE | ss3690465147 | Jul 13, 2019 (153) |
115 | ILLUMINA | ss3725179550 | Jul 13, 2019 (153) |
116 | ACPOP | ss3737587066 | Jul 13, 2019 (153) |
117 | ILLUMINA | ss3744369924 | Jul 13, 2019 (153) |
118 | ILLUMINA | ss3744718895 | Jul 13, 2019 (153) |
119 | EVA | ss3748470526 | Jul 13, 2019 (153) |
120 | ILLUMINA | ss3772219251 | Jul 13, 2019 (153) |
121 | KHV_HUMAN_GENOMES | ss3813837035 | Jul 13, 2019 (153) |
122 | EVA | ss3824541104 | Apr 26, 2020 (154) |
123 | EVA | ss3825780791 | Apr 26, 2020 (154) |
124 | HGDP | ss3847396074 | Apr 26, 2020 (154) |
125 | SGDP_PRJ | ss3874831499 | Apr 26, 2020 (154) |
126 | KRGDB | ss3922960236 | Apr 26, 2020 (154) |
127 | KOGIC | ss3968461756 | Apr 26, 2020 (154) |
128 | FSA-LAB | ss3983983403 | Apr 26, 2021 (155) |
129 | EVA | ss3984639065 | Apr 26, 2021 (155) |
130 | EVA | ss3985493329 | Apr 26, 2021 (155) |
131 | EVA | ss3986493499 | Apr 26, 2021 (155) |
132 | TOPMED | ss4862693677 | Apr 26, 2021 (155) |
133 | TOPMED | ss4862693678 | Apr 26, 2021 (155) |
134 | TOMMO_GENOMICS | ss5198977293 | Apr 26, 2021 (155) |
135 | EVA | ss5236886090 | Apr 26, 2021 (155) |
136 | EVA | ss5237481940 | Apr 26, 2021 (155) |
137 | EVA | ss5237481941 | Apr 26, 2021 (155) |
138 | QINSY-LAB | ss5237630502 | Oct 16, 2022 (156) |
139 | EVA | ss5237655814 | Oct 16, 2022 (156) |
140 | 1000G_HIGH_COVERAGE | ss5285094470 | Oct 16, 2022 (156) |
141 | TRAN_CS_UWATERLOO | ss5314429333 | Oct 16, 2022 (156) |
142 | EVA | ss5315494592 | Oct 16, 2022 (156) |
143 | EVA | ss5395333477 | Oct 16, 2022 (156) |
144 | HUGCELL_USP | ss5480552797 | Oct 16, 2022 (156) |
145 | EVA | ss5510130191 | Oct 16, 2022 (156) |
146 | EVA | ss5512473914 | Oct 16, 2022 (156) |
147 | 1000G_HIGH_COVERAGE | ss5579575173 | Oct 16, 2022 (156) |
148 | SANFORD_IMAGENETICS | ss5624255749 | Oct 16, 2022 (156) |
149 | SANFORD_IMAGENETICS | ss5649889766 | Oct 16, 2022 (156) |
150 | TOMMO_GENOMICS | ss5745197781 | Oct 16, 2022 (156) |
151 | EVA | ss5799403708 | Oct 16, 2022 (156) |
152 | EVA | ss5800062051 | Oct 16, 2022 (156) |
153 | YY_MCH | ss5811794017 | Oct 16, 2022 (156) |
154 | EVA | ss5824809647 | Oct 16, 2022 (156) |
155 | EVA | ss5847378129 | Oct 16, 2022 (156) |
156 | EVA | ss5847605672 | Oct 16, 2022 (156) |
157 | EVA | ss5848304509 | Oct 16, 2022 (156) |
158 | EVA | ss5849697687 | Oct 16, 2022 (156) |
159 | EVA | ss5880092860 | Oct 16, 2022 (156) |
160 | EVA | ss5941176035 | Oct 16, 2022 (156) |
161 | 1000Genomes | NC_000010.10 - 96741053 | Oct 12, 2018 (152) |
162 | 1000Genomes_30x | NC_000010.11 - 94981296 | Oct 16, 2022 (156) |
163 | The Avon Longitudinal Study of Parents and Children | NC_000010.10 - 96741053 | Oct 12, 2018 (152) |
164 | Genome-wide autozygosity in Daghestan | NC_000010.9 - 96731043 | Apr 26, 2020 (154) |
165 | Genetic variation in the Estonian population | NC_000010.10 - 96741053 | Oct 12, 2018 (152) |
166 | ExAC | NC_000010.10 - 96741053 | Oct 12, 2018 (152) |
167 | FINRISK | NC_000010.10 - 96741053 | Apr 26, 2020 (154) |
168 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
169 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
170 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
171 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
172 | Genome of the Netherlands Release 5 | NC_000010.10 - 96741053 | Apr 26, 2020 (154) |
173 | HGDP-CEPH-db Supplement 1 | NC_000010.9 - 96731043 | Apr 26, 2020 (154) |
174 | HapMap | NC_000010.11 - 94981296 | Apr 26, 2020 (154) |
175 | KOREAN population from KRGDB | NC_000010.10 - 96741053 | Apr 26, 2020 (154) |
176 | Korean Genome Project | NC_000010.11 - 94981296 | Apr 26, 2020 (154) |
177 | Medical Genome Project healthy controls from Spanish population | NC_000010.10 - 96741053 | Apr 26, 2020 (154) |
178 | Northern Sweden | NC_000010.10 - 96741053 | Jul 13, 2019 (153) |
179 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000010.10 - 96741053 | Apr 26, 2021 (155) |
180 | CNV burdens in cranial meningiomas | NC_000010.10 - 96741053 | Apr 26, 2021 (155) |
181 | PharmGKB Aggregated | NC_000010.11 - 94981296 | Apr 26, 2020 (154) |
182 | Qatari | NC_000010.10 - 96741053 | Apr 26, 2020 (154) |
183 | SGDP_PRJ | NC_000010.10 - 96741053 | Apr 26, 2020 (154) |
184 | Siberian | NC_000010.10 - 96741053 | Apr 26, 2020 (154) |
185 | 8.3KJPN | NC_000010.10 - 96741053 | Apr 26, 2021 (155) |
186 | 14KJPN | NC_000010.11 - 94981296 | Oct 16, 2022 (156) |
187 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
188 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
189 | UK 10K study - Twins | NC_000010.10 - 96741053 | Oct 12, 2018 (152) |
190 | A Vietnamese Genetic Variation Database | NC_000010.10 - 96741053 | Jul 13, 2019 (153) |
191 | ALFA | NC_000010.11 - 94981296 | Apr 26, 2021 (155) |
192 | ClinVar | RCV000008916.2 | Oct 16, 2022 (156) |
193 | ClinVar | RCV000008917.5 | Oct 16, 2022 (156) |
194 | ClinVar | RCV000008918.4 | Oct 16, 2022 (156) |
195 | ClinVar | RCV000008919.4 | Oct 16, 2022 (156) |
196 | ClinVar | RCV000150377.4 | Oct 16, 2022 (156) |
197 | ClinVar | RCV000150378.4 | Oct 16, 2022 (156) |
198 | ClinVar | RCV000154312.4 | Oct 16, 2022 (156) |
199 | ClinVar | RCV000339502.4 | Oct 16, 2022 (156) |
200 | ClinVar | RCV000787930.3 | Oct 16, 2022 (156) |
201 | ClinVar | RCV000788094.3 | Oct 16, 2022 (156) |
202 | ClinVar | RCV000788100.3 | Oct 16, 2022 (156) |
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) |
---|---|
rs3198471 | Jul 03, 2002 (106) |
rs17847042 | Mar 10, 2006 (126) |
rs61212474 | May 26, 2008 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
ss3638949447, ss3639474781 | NC_000010.8:96731042:A:C | NC_000010.11:94981295:A:C | (self) |
60926, 73966, ss207372734, ss482693779, ss491629979, ss825346614, ss1397589497, ss1597479676, ss1713202740, ss2635018036, ss3642869426, ss3847396074 | NC_000010.9:96731042:A:C | NC_000010.11:94981295:A:C | (self) |
51063033, 28349403, 20119164, 242346, 65950, 12641188, 30137630, 381586, 10871931, 719256, 188531, 13214489, 26848479, 7107566, 56946600, 28349403, 6295229, ss235293156, ss241976260, ss342304169, ss483026418, ss484045519, ss491001674, ss491438637, ss536236827, ss657186290, ss778683444, ss780889011, ss782467384, ss783575257, ss832649940, ss834142053, ss974475598, ss987806381, ss1067514968, ss1077216799, ss1338631396, ss1584069489, ss1625199581, ss1668193614, ss1690012670, ss1711265826, ss1751988390, ss1917849833, ss1931172559, ss1946289814, ss1959285055, ss1966651107, ss2026314474, ss2094788887, ss2095016478, ss2154591212, ss2632748535, ss2632748536, ss2632748537, ss2632748538, ss2698844101, ss2710717613, ss2738421843, ss2748441781, ss2892149318, ss2984920017, ss2985568284, ss3006969228, ss3021264956, ss3349262052, ss3626510129, ss3626510130, ss3630771766, ss3634417926, ss3636102431, ss3637867360, ss3640125267, ss3644542560, ss3646413639, ss3651623380, ss3651623381, ss3653690753, ss3674380916, ss3737587066, ss3744369924, ss3744718895, ss3748470526, ss3772219251, ss3824541104, ss3825780791, ss3874831499, ss3922960236, ss3983983403, ss3984639065, ss3985493329, ss3986493499, ss5198977293, ss5237481940, ss5237481941, ss5237630502, ss5315494592, ss5395333477, ss5510130191, ss5512473914, ss5624255749, ss5649889766, ss5799403708, ss5800062051, ss5824809647, ss5847378129, ss5847605672, ss5848304509, ss5941176035 | NC_000010.10:96741052:A:C | NC_000010.11:94981295:A:C | (self) |
RCV000008916.2, RCV000008917.5, RCV000008918.4, RCV000008919.4, RCV000150378.4, RCV000339502.4, RCV000787930.3, RCV000788094.3, RCV000788100.3, 67101108, 468414, 24839757, 1153, 79034885, 4527954276, ss244238827, ss256302165, ss2177161303, ss3645156529, ss3690465147, ss3725179550, ss3813837035, ss3968461756, ss4862693677, ss5236886090, ss5237655814, ss5285094470, ss5314429333, ss5480552797, ss5579575173, ss5745197781, ss5811794017, ss5849697687, ss5880092860 | NC_000010.11:94981295:A:C | NC_000010.11:94981295:A:C | (self) |
ss76884483 | NT_030059.12:15489578:A:C | NC_000010.11:94981295:A:C | (self) |
ss1538933, ss2419886, ss4426472, ss5586419, ss12588583, ss28501344, ss32475993, ss66633834, ss66862440, ss66896412, ss67006369, ss68421487, ss69088153, ss69365624, ss69366288, ss69366432, ss69367461, ss70377003, ss70492465, ss71017148, ss75526698, ss79314175, ss83675538, ss84158157, ss105107895, ss105108091, ss105109763, ss121372691, ss152795933, ss159137280, ss161109628, ss169571265, ss170390048, ss244269683, ss410888155 | NT_030059.13:47545516:A:C | NC_000010.11:94981295:A:C | (self) |
ss2738421843 | NC_000010.10:96741052:A:G | NC_000010.11:94981295:A:G | (self) |
4527954276, ss4862693678 | NC_000010.11:94981295:A:G | NC_000010.11:94981295:A:G | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
8873220 | The role of the CYP2C9-Leu359 allelic variant in the tolbutamide polymorphism. | Sullivan-Klose TH et al. | 1996 | Pharmacogenetics |
9352571 | Genetic association between sensitivity to warfarin and expression of CYP2C9*3. | Steward DJ et al. | 1997 | Pharmacogenetics |
9630825 | Metabolism of warfarin enantiomers in Japanese patients with heart disease having different CYP2C9 and CYP2C19 genotypes. | Takahashi H et al. | 1998 | Clinical pharmacology and therapeutics |
10073515 | Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications. | Aithal GP et al. | 1999 | Lancet (London, England) |
10208645 | Pharmacokinetics of chlorpheniramine, phenytoin, glipizide and nifedipine in an individual homozygous for the CYP2C9*3 allele. | Kidd RS et al. | 1999 | Pharmacogenetics |
10509530 | CYP2C9*3 allelic variant and bleeding complications. | Ogg MS et al. | 1999 | Lancet (London, England) |
10961881 | Influence of cytochrome P-450 CYP2C9 polymorphisms on warfarin sensitivity and risk of over-anticoagulation in patients on long-term treatment. | Taube J et al. | 2000 | Blood |
11127854 | Genetic modulation of oral anticoagulation with warfarin. | Margaglione M et al. | 2000 | Thrombosis and haemostasis |
11337938 | In-vitro metabolism of celecoxib, a cyclooxygenase-2 inhibitor, by allelic variant forms of human liver microsomal cytochrome P450 2C9: correlation with CYP2C9 genotype and in-vivo pharmacokinetics. | Tang C et al. | 2001 | Pharmacogenetics |
11692083 | Early acenocoumarol overanticoagulation among cytochrome P450 2C9 poor metabolizers. | Verstuyft C et al. | 2001 | Pharmacogenetics |
12893985 | Influence of CYP2C9 genetic polymorphisms on pharmacokinetics of celecoxib and its metabolites. | Kirchheiner J et al. | 2003 | Pharmacogenetics |
14707031 | Genetic predisposition to acute gastrointestinal bleeding after NSAIDs use. | Martínez C et al. | 2004 | British journal of pharmacology |
15116053 | Pharmacogenetics of acenocoumarol pharmacodynamics. | Morin S et al. | 2004 | Clinical pharmacology and therapeutics |
15805193 | Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. | Tate SK et al. | 2005 | Proceedings of the National Academy of Sciences of the United States of America |
16153401 | Cytochrome P450 2C9 genotype: impact on celecoxib safety and pharmacokinetics in a pediatric patient. | Stempak D et al. | 2005 | Clinical pharmacology and therapeutics |
16385451 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | Grupe A et al. | 2006 | American journal of human genetics |
16432637 | Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patients. | Mushiroda T et al. | 2006 | Journal of human genetics |
17048007 | Association of warfarin dose with genes involved in its action and metabolism. | Wadelius M et al. | 2007 | Human genetics |
17111199 | Genotypes of the cytochrome p450 isoform, CYP2C9, and the vitamin K epoxide reductase complex subunit 1 conjointly determine stable warfarin dose: a prospective study. | Carlquist JF et al. | 2006 | Journal of thrombosis and thrombolysis |
17368604 | The association of CYP2C9 gene polymorphisms with colorectal carcinoma in Han Chinese. | Liao LH et al. | 2007 | Clinica chimica acta; international journal of clinical chemistry |
17387222 | Genetic-based dosing in orthopedic patients beginning warfarin therapy. | Millican EA et al. | 2007 | Blood |
17681167 | Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms. | Pilotto A et al. | 2007 | Gastroenterology |
18030307 | Combination of phenotype assessments and CYP2C9-VKORC1 polymorphisms in the determination of warfarin dose requirements in heavily medicated patients. | Michaud V et al. | 2008 | Clinical pharmacology and therapeutics |
18305455 | Use of pharmacogenetic and clinical factors to predict the therapeutic dose of warfarin. | Gage BF et al. | 2008 | Clinical pharmacology and therapeutics |
18466099 | Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European-Americans and African-Americans. | Limdi NA et al. | 2008 | Pharmacogenomics |
18535201 | A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. | Cooper GM et al. | 2008 | Blood |
18542936 | VKORC1 and CYP2C9 polymorphisms are associated with warfarin dose requirements in Turkish patients. | Oner Ozgon G et al. | 2008 | European journal of clinical pharmacology |
18547414 | Genotyping panel for assessing response to cancer chemotherapy. | Dai Z et al. | 2008 | BMC medical genomics |
18574025 | The largest prospective warfarin-treated cohort supports genetic forecasting. | Wadelius M et al. | 2009 | Blood |
18596683 | Dosing algorithms to predict warfarin maintenance dose in Caucasians and African Americans. | Schelleman H et al. | 2008 | Clinical pharmacology and therapeutics |
18662264 | Laboratory and clinical outcomes of pharmacogenetic vs. clinical protocols for warfarin initiation in orthopedic patients. | Lenzini PA et al. | 2008 | Journal of thrombosis and haemostasis |
18680736 | Genetic factors contribute to patient-specific warfarin dose for Han Chinese. | Wang TL et al. | 2008 | Clinica chimica acta; international journal of clinical chemistry |
18752379 | Warfarin pharmacogenetics. | Limdi NA et al. | 2008 | Pharmacotherapy |
18936436 | Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. | Chang MH et al. | 2009 | American journal of epidemiology |
18990750 | Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk. | Cotterchio M et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
18992263 | Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways. | Slattery ML et al. | 2009 | Mutation research |
19177029 | Validation of VKORC1 and CYP2C9 genotypes on interindividual warfarin maintenance dose: a prospective study in Chinese patients. | Huang SW et al. | 2009 | Pharmacogenetics and genomics |
19223558 | Polymorphic variation in NFKB1 and other aspirin-related genes and risk of Hodgkin lymphoma. | Chang ET et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
19228618 | Estimation of the warfarin dose with clinical and pharmacogenetic data. | Klein TE et al. | 2009 | The New England journal of medicine |
19300499 | A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose. | Takeuchi F et al. | 2009 | PLoS genetics |
19376514 | Association of cyclophosphamide drug-metabolizing enzyme polymorphisms and chemotherapy-related ovarian failure in breast cancer survivors. | Su HI et al. | 2010 | Fertility and sterility |
19387626 | Exploring warfarin pharmacogenomics with the extreme-discordant-phenotype methodology: impact of FVII polymorphisms on stable anticoagulation with warfarin. | Fuchshuber-Moraes M et al. | 2009 | European journal of clinical pharmacology |
19422321 | Genetically based impairment in CYP2C8- and CYP2C9-dependent NSAID metabolism as a risk factor for gastrointestinal bleeding: is a combination of pharmacogenomics and metabolomics required to improve personalized medicine? | Agúndez JA et al. | 2009 | Expert opinion on drug metabolism & toxicology |
19538716 | Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores). | Branco CC et al. | 2009 | Thrombosis journal |
19617466 | CYP2C9, CYP2C19, and ABCB1 genotype and hospitalization for phenytoin toxicity. | Hennessy S et al. | 2009 | Journal of clinical pharmacology |
19679631 | Interactive modeling for ongoing utility of pharmacogenetic diagnostic testing: application for warfarin therapy. | Linder MW et al. | 2009 | Clinical chemistry |
19694740 | No significant effect of ABCB1 haplotypes on the pharmacokinetics of fluvastatin, pravastatin, lovastatin, and rosuvastatin. | Keskitalo JE et al. | 2009 | British journal of clinical pharmacology |
19794411 | Genetic factors (VKORC1, CYP2C9, EPHX1, and CYP4F2) are predictor variables for warfarin response in very elderly, frail inpatients. | Pautas E et al. | 2010 | Clinical pharmacology and therapeutics |
19874474 | Ability of VKORC1 and CYP2C9 to predict therapeutic warfarin dose during the initial weeks of therapy. | Ferder NS et al. | 2010 | Journal of thrombosis and haemostasis |
19955245 | Warfarin sensitivity genotyping: a review of the literature and summary of patient experience. | Moyer TP et al. | 2009 | Mayo Clinic proceedings |
20017677 | ARMS test for diagnosis of CYP2C9 and VKORC1 mutation in patients with pulmonary embolism in Han Chinese. | Zhu J et al. | 2010 | Pharmacogenomics |
20072124 | Genetic and clinical predictors of warfarin dose requirements in African Americans. | Cavallari LH et al. | 2010 | Clinical pharmacology and therapeutics |
20082485 | Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women. | Báez S et al. | 2010 | World journal of gastroenterology |
20149073 | Pharmacogenetics of acenocoumarol in patients with extreme dose requirements. | Pérez-Andreu V et al. | 2010 | Journal of thrombosis and haemostasis |
20150829 | Cytochrome P450 2C9-CYP2C9. | Van Booven D et al. | 2010 | Pharmacogenetics and genomics |
20175863 | The genetics of ischaemic stroke. | Matarin M et al. | 2010 | Journal of internal medicine |
20203262 | Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups. | Limdi NA et al. | 2010 | Blood |
20214591 | Pharmacogenomics in aspirin intolerance. | Agúndez JA et al. | 2009 | Current drug metabolism |
20459744 | Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study. | Gor PP et al. | 2010 | Breast cancer research |
20555338 | Worldwide allele frequency distribution of four polymorphisms associated with warfarin dose requirements. | Ross KA et al. | 2010 | Journal of human genetics |
20585445 | A novel, single algorithm approach to predict acenocoumarol dose based on CYP2C9 and VKORC1 allele variants. | Verde Z et al. | 2010 | PloS one |
20653676 | CYP4F2 rs2108622: a minor significant genetic factor of warfarin dose in Han Chinese patients with mechanical heart valve replacement. | Cen HJ et al. | 2010 | British journal of clinical pharmacology |
20709439 | Warfarin dosing in patients with impaired kidney function. | Limdi NA et al. | 2010 | American journal of kidney diseases |
20716240 | New genetic variant that might improve warfarin dose prediction in African Americans. | Schelleman H et al. | 2010 | British journal of clinical pharmacology |
20733952 | Warfarin genotyping using three different platforms. | Lefferts JA et al. | 2010 | American journal of translational research |
20808793 | Are cytochrome P450 CYP2C8 and CYP2C9 polymorphisms associated with ibuprofen response in very preterm infants? | Durrmeyer X et al. | 2010 | PloS one |
20833980 | In pediatric patients, age has more impact on dosing of vitamin K antagonists than VKORC1 or CYP2C9 genotypes. | Nowak-Göttl U et al. | 2010 | Blood |
20842355 | VKORC1-1639G>A, CYP2C9, EPHX1691A>G genotype, body weight, and age are important predictors for warfarin maintenance doses in patients with mechanical heart valve prostheses in southwest China. | Gu Q et al. | 2010 | European journal of clinical pharmacology |
20847277 | Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification. | Baak-Pablo R et al. | 2010 | The Journal of molecular diagnostics |
20854800 | Genotyping three SNPs affecting warfarin drug response by isothermal real-time HDA assays. | Li Y et al. | 2011 | Clinica chimica acta; international journal of clinical chemistry |
20921971 | Mapping genes that predict treatment outcome in admixed populations. | Baye TM et al. | 2010 | The pharmacogenomics journal |
20936101 | Pharmacogenetics of Anti-Diabetes Drugs. | Distefano JK et al. | 2010 | Pharmaceuticals (Basel, Switzerland) |
20937634 | Cigarette smoking, genetic variants in carcinogen-metabolizing enzymes, and colorectal cancer risk. | Cleary SP et al. | 2010 | American journal of epidemiology |
21110013 | Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters. | Geisen C et al. | 2011 | European journal of clinical pharmacology |
21110192 | Contribution of VKORC1 and CYP2C9 polymorphisms in the interethnic variability of warfarin dose in Malaysian populations. | Gan GG et al. | 2011 | Annals of hematology |
21127708 | Genetic variation of VKORC1 and CYP4F2 genes related to warfarin maintenance dose in patients with myocardial infarction. | Kringen MK et al. | 2011 | Journal of biomedicine & biotechnology |
21132113 | Direct-to-Consumer Genetic and Genomic Testing: Preparing Nurse Practitioners for Genomic Healthcare. | Loud JT et al. | 2010 | The journal for nurse practitioners |
21148049 | Influence of CYP2C9 and VKORC1 polymorphisms on warfarin and acenocoumarol in a sample of Lebanese people. | Esmerian MO et al. | 2011 | Journal of clinical pharmacology |
21219403 | Amoxicillin/clavulanic acid-warfarin drug interaction: a randomized controlled trial. | Zhang Q et al. | 2011 | British journal of clinical pharmacology |
21228733 | Genetic and nongenetic factors associated with warfarin dose requirements in Egyptian patients. | Shahin MH et al. | 2011 | Pharmacogenetics and genomics |
21270790 | The missing association: sequencing-based discovery of novel SNPs in VKORC1 and CYP2C9 that affect warfarin dose in African Americans. | Perera MA et al. | 2011 | Clinical pharmacology and therapeutics |
21320153 | Influence of genetic, biological and pharmacological factors on warfarin dose in a Southern Brazilian population of European ancestry. | Botton MR et al. | 2011 | British journal of clinical pharmacology |
21383771 | Translational aspects of genetic factors in the prediction of drug response variability: a case study of warfarin pharmacogenomics in a multi-ethnic cohort from Asia. | Chan SL et al. | 2012 | The pharmacogenomics journal |
21428770 | Genomics and drug response. | Wang L et al. | 2011 | The New England journal of medicine |
21441355 | Detection of common single nucleotide polymorphisms synthesizing quantitative trait association of rarer causal variants. | Takeuchi F et al. | 2011 | Genome research |
21450715 | High-dimensional pharmacogenetic prediction of a continuous trait using machine learning techniques with application to warfarin dose prediction in African Americans. | Cosgun E et al. | 2011 | Bioinformatics (Oxford, England) |
21480951 | Impact of CYP2D6, CYP3A5, CYP2C9 and CYP2C19 polymorphisms on tamoxifen pharmacokinetics in Asian breast cancer patients. | Lim JS et al. | 2011 | British journal of clinical pharmacology |
21532843 | Interaction between use of non-steroidal anti-inflammatory drugs and selected genetic polymorphisms in ovarian cancer risk. | Pinheiro SP et al. | 2010 | International journal of molecular epidemiology and genetics |
21562147 | Identification of cytochrome P450 oxidoreductase gene variants that are significantly associated with the interindividual variations in warfarin maintenance dose. | Zhang X et al. | 2011 | Drug metabolism and disposition |
21575037 | Population diversity and the performance of warfarin dosing algorithms. | Suarez-Kurtz G et al. | 2011 | British journal of clinical pharmacology |
21639946 | Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians. | Suriapranata IM et al. | 2011 | BMC medical genetics |
21691466 | Genetics of warfarin sensitivity in an emergency department population with thromboembolic. | Johnson SW et al. | 2011 | The western journal of emergency medicine |
21708280 | Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis. | Srivastava K et al. | 2011 | Mutation research |
21803011 | Pharmacogenetic trial of a cannabinoid agonist shows reduced fasting colonic motility in patients with nonconstipated irritable bowel syndrome. | Wong BS et al. | 2011 | Gastroenterology |
21883387 | Impact of genetic factors (VKORC1, CYP2C9, CYP4F2 and EPHX1) on the anticoagulation response to fluindione. | Lacut K et al. | 2012 | British journal of clinical pharmacology |
21900891 | Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing. | Johnson JA et al. | 2011 | Clinical pharmacology and therapeutics |
21918509 | Pharmacogenomics: application to the management of cardiovascular disease. | Johnson JA et al. | 2011 | Clinical pharmacology and therapeutics |
22010099 | VKORC1 and CYP2C9 genotype and patient characteristics explain a large proportion of the variability in warfarin dose requirement among children. | Biss TT et al. | 2012 | Blood |
22023024 | The pharmacogenetics of the response to warfarin in Chinese. | Lam MP et al. | 2012 | British journal of clinical pharmacology |
22114699 | Clinical and genetic determinants of warfarin pharmacokinetics and pharmacodynamics during treatment initiation. | Gong IY et al. | 2011 | PloS one |
22116191 | The Creating an Optimal Warfarin Nomogram (CROWN) Study. | Perlstein TS et al. | 2012 | Thrombosis and haemostasis |
22122181 | Role of pharmacogenomics in the management of traditional and novel oral anticoagulants. | Cavallari LH et al. | 2011 | Pharmacotherapy |
22126607 | Pharmacogenetics in type 2 diabetes: potential implications for clinical practice. | Huang C et al. | 2011 | Genome medicine |
22178823 | [Distribution of variant alleles association with warfarin pharmacokinetics and pharmacodynamics in the Han population in China]. | Liu Y et al. | 2011 | Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences |
22186998 | Pharmacogenetic warfarin dose refinements remain significantly influenced by genetic factors after one week of therapy. | Horne BD et al. | 2012 | Thrombosis and haemostasis |
22248286 | Genetic polymorphisms are associated with variations in warfarin maintenance dose in Han Chinese patients with venous thromboembolism. | Zhang W et al. | 2012 | Pharmacogenomics |
22301281 | Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk. | Jang JH et al. | 2012 | Carcinogenesis |
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36076616 | Pharmacogenetics of siponimod: A systematic review. | Díaz-Villamarín X et al. | 2022 | Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.