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.
rs28371685
Current Build 157
Released September 3, 2024
- Organism
- Homo sapiens
- Position
-
chr10:94981224 (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
- C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.0031693 (4441/1401262, GnomAD_exomes)T=0.002891 (904/312702, ALFA)T=0.007167 (1897/264690, TOPMED) (+ 16 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CYP2C9 : Missense Variant
- Publications
- 36 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 | 312702 | C=0.997109 | T=0.002891 | 0.994231 | 1.3e-05 | 0.005756 | 0 |
| European | Sub | 272114 | C=0.997769 | T=0.002231 | 0.995553 | 0.000015 | 0.004432 | 2 |
| African | Sub | 13262 | C=0.98341 | T=0.01659 | 0.966823 | 0.0 | 0.033177 | 1 |
| African Others | Sub | 488 | C=0.986 | T=0.014 | 0.971311 | 0.0 | 0.028689 | 0 |
| African American | Sub | 12774 | C=0.98333 | T=0.01667 | 0.966651 | 0.0 | 0.033349 | 1 |
| Asian | Sub | 3824 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 3112 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 712 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 1274 | C=0.9961 | T=0.0039 | 0.992151 | 0.0 | 0.007849 | 0 |
| Latin American 2 | Sub | 1846 | C=0.9989 | T=0.0011 | 0.997833 | 0.0 | 0.002167 | 0 |
| South Asian | Sub | 5216 | C=0.9971 | T=0.0029 | 0.994248 | 0.0 | 0.005752 | 0 |
| Other | Sub | 15166 | C=0.99637 | T=0.00363 | 0.992747 | 0.0 | 0.007253 | 0 |
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 | 1401262 | C=0.9968307 | T=0.0031693 |
| gnomAD v4 - Exomes | European | Sub | 1165294 | C=0.9970668 | T=0.0029332 |
| gnomAD v4 - Exomes | South Asian | Sub | 86256 | C=0.99702 | T=0.00298 |
| gnomAD v4 - Exomes | American | Sub | 44672 | C=0.99803 | T=0.00197 |
| gnomAD v4 - Exomes | East Asian | Sub | 39694 | C=0.99997 | T=0.00003 |
| gnomAD v4 - Exomes | African | Sub | 33456 | C=0.98045 | T=0.01955 |
| gnomAD v4 - Exomes | Ashkenazi Jewish | Sub | 26124 | C=0.99989 | T=0.00011 |
| gnomAD v4 - Exomes | Middle Eastern | sub | 5766 | C=0.9965 | T=0.0035 |
| Allele Frequency Aggregator | Total | Global | 312702 | C=0.997109 | T=0.002891 |
| Allele Frequency Aggregator | European | Sub | 272114 | C=0.997769 | T=0.002231 |
| Allele Frequency Aggregator | Other | Sub | 15166 | C=0.99637 | T=0.00363 |
| Allele Frequency Aggregator | African | Sub | 13262 | C=0.98341 | T=0.01659 |
| Allele Frequency Aggregator | South Asian | Sub | 5216 | C=0.9971 | T=0.0029 |
| Allele Frequency Aggregator | Asian | Sub | 3824 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 1846 | C=0.9989 | T=0.0011 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1274 | C=0.9961 | T=0.0039 |
| TopMed | Global | Study-wide | 264690 | C=0.992833 | T=0.007167 |
| gnomAD v4 - Genomes | Global | Study-wide | 149182 | C=0.992908 | T=0.007092 |
| gnomAD v4 - Genomes | European | Sub | 78596 | C=0.99667 | T=0.00333 |
| gnomAD v4 - Genomes | African | Sub | 41552 | C=0.98265 | T=0.01735 |
| gnomAD v4 - Genomes | American | Sub | 15280 | C=0.99575 | T=0.00425 |
| gnomAD v4 - Genomes | East Asian | Sub | 5182 | C=1.0000 | T=0.0000 |
| gnomAD v4 - Genomes | South Asian | Sub | 4808 | C=0.9983 | T=0.0017 |
| gnomAD v4 - Genomes | Ashkenazi Jewish | Sub | 3470 | C=1.0000 | T=0.0000 |
| gnomAD v4 - Genomes | Middle Eastern | sub | 294 | C=0.993 | T=0.007 |
| ExAC | Global | Study-wide | 121288 | C=0.996216 | T=0.003784 |
| ExAC | Europe | Sub | 73334 | C=0.99752 | T=0.00248 |
| ExAC | Asian | Sub | 25154 | C=0.99869 | T=0.00131 |
| ExAC | American | Sub | 11486 | C=0.99843 | T=0.00157 |
| ExAC | African | Sub | 10406 | C=0.97857 | T=0.02143 |
| ExAC | Other | Sub | 908 | C=0.997 | T=0.003 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | C=0.99231 | T=0.00769 |
| GO Exome Sequencing Project | European American | Sub | 8600 | C=0.9981 | T=0.0019 |
| GO Exome Sequencing Project | African American | Sub | 4406 | C=0.9809 | T=0.0191 |
| 1000Genomes_30X | Global | Study-wide | 6404 | C=0.9919 | T=0.0081 |
| 1000Genomes_30X | African | Sub | 1786 | C=0.9731 | T=0.0269 |
| 1000Genomes_30X | Europe | Sub | 1266 | C=0.9984 | T=0.0016 |
| 1000Genomes_30X | South Asian | Sub | 1202 | C=0.9992 | T=0.0008 |
| 1000Genomes_30X | East Asian | Sub | 1170 | C=1.0000 | T=0.0000 |
| 1000Genomes_30X | American | Sub | 980 | C=0.999 | T=0.001 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.9928 | T=0.0072 |
| 1000Genomes | African | Sub | 1322 | C=0.9758 | T=0.0242 |
| 1000Genomes | East Asian | Sub | 1008 | C=1.0000 | T=0.0000 |
| 1000Genomes | Europe | Sub | 1006 | C=0.9980 | T=0.0020 |
| 1000Genomes | South Asian | Sub | 978 | C=0.999 | T=0.001 |
| 1000Genomes | American | Sub | 694 | C=0.999 | T=0.001 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.9996 | T=0.0004 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.9956 | T=0.0044 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.9978 | T=0.0022 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.995 | T=0.005 |
| HapMap | Global | Study-wide | 888 | C=0.918 | T=0.082 |
| HapMap | African | Sub | 448 | C=0.844 | T=0.156 |
| HapMap | American | Sub | 270 | C=0.993 | T=0.007 |
| HapMap | Asian | Sub | 170 | C=0.994 | T=0.006 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.998 | T=0.002 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.998 | T=0.002 |
| PharmGKB Aggregated | Global | Study-wide | 354 | C=0.997 | T=0.003 |
| PharmGKB Aggregated | PA149568210 | Sub | 354 | C=0.997 | T=0.003 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.997 | T=0.003 |
| SGDP_PRJ | Global | Study-wide | 4 | C=0.5 | T=0.5 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.94981224C>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.96740981C>T |
| CYP2C9 RefSeqGene (LRG_1195) | NG_008385.2:g.48067C>T |
Gene: CYP2C9, cytochrome P450 family 2 subfamily C member 9
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CYP2C9 transcript | NM_000771.4:c.1003C>T | R [CGG] > W [TGG] | Coding Sequence Variant |
| cytochrome P450 2C9 | NP_000762.2:p.Arg335Trp | R (Arg) > W (Trp) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: T (allele ID:
354244
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000787934.10 | Flurbiprofen response | Drug-Response |
| RCV000788098.10 | Lesinurad response | Drug-Response |
| RCV000788104.10 | Piroxicam response | Drug-Response |
| RCV000835752.13 | not provided | Benign-Likely-Benign |
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 | C= | T |
|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.94981224= | NC_000010.11:g.94981224C>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.96740981= | NC_000010.10:g.96740981C>T |
| CYP2C9 RefSeqGene (LRG_1195) | NG_008385.2:g.48067= | NG_008385.2:g.48067C>T |
| CYP2C9 transcript | NM_000771.4:c.1003= | NM_000771.4:c.1003C>T |
| CYP2C9 transcript | NM_000771.3:c.1003= | NM_000771.3:c.1003C>T |
| cytochrome P450 2C9 | NP_000762.2:p.Arg335= | NP_000762.2:p.Arg335Trp |
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#.
103 SubSNP,
18 Frequency,
4 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | BIOVENTURES | ss32475992 | May 24, 2005 (125) |
| 2 | ILLUMINA | ss75248035 | Dec 05, 2007 (129) |
| 3 | CCHMC-CAE-PGCORE | ss79314172 | Dec 15, 2007 (130) |
| 4 | PHARMGKB_AB_DME | ss84158168 | Dec 15, 2007 (130) |
| 5 | SNP500CANCER | ss105440151 | Feb 06, 2009 (130) |
| 6 | KRIBB_YJKIM | ss119898959 | Dec 01, 2009 (131) |
| 7 | ILLUMINA | ss154239169 | Dec 01, 2009 (131) |
| 8 | ILLUMINA | ss159415556 | Dec 01, 2009 (131) |
| 9 | ILLUMINA | ss160586162 | Dec 01, 2009 (131) |
| 10 | ILLUMINA | ss173489292 | Jul 04, 2010 (132) |
| 11 | 1000GENOMES | ss224884753 | Jul 14, 2010 (132) |
| 12 | ILLUMINA | ss244292260 | Jul 04, 2010 (132) |
| 13 | NHLBI-ESP | ss342304168 | May 09, 2011 (134) |
| 14 | ILLUMINA | ss480685451 | May 04, 2012 (137) |
| 15 | ILLUMINA | ss480700957 | May 04, 2012 (137) |
| 16 | ILLUMINA | ss481558910 | Sep 08, 2015 (146) |
| 17 | ILLUMINA | ss482447195 | May 04, 2012 (137) |
| 18 | ILLUMINA | ss482693776 | May 04, 2012 (137) |
| 19 | ILLUMINA | ss485137555 | May 04, 2012 (137) |
| 20 | 1000GENOMES | ss491001673 | May 04, 2012 (137) |
| 21 | EXOME_CHIP | ss491438636 | May 04, 2012 (137) |
| 22 | CLINSEQ_SNP | ss491629977 | May 04, 2012 (137) |
| 23 | ILLUMINA | ss534653390 | Sep 08, 2015 (146) |
| 24 | ILLUMINA | ss779369329 | Sep 08, 2015 (146) |
| 25 | ILLUMINA | ss781764474 | Sep 08, 2015 (146) |
| 26 | ILLUMINA | ss783015078 | Sep 08, 2015 (146) |
| 27 | ILLUMINA | ss832272509 | Sep 08, 2015 (146) |
| 28 | ILLUMINA | ss832927217 | Jul 13, 2019 (153) |
| 29 | ILLUMINA | ss834837654 | Sep 08, 2015 (146) |
| 30 | EVA-GONL | ss987806380 | Aug 21, 2014 (142) |
| 31 | JMKIDD_LAB | ss1067514967 | Aug 21, 2014 (142) |
| 32 | 1000GENOMES | ss1338631395 | Aug 21, 2014 (142) |
| 33 | DDI | ss1426411518 | Apr 01, 2015 (144) |
| 34 | EVA_FINRISK | ss1584069488 | Apr 01, 2015 (144) |
| 35 | EVA_DECODE | ss1597479675 | Apr 01, 2015 (144) |
| 36 | EVA_UK10K_ALSPAC | ss1625199578 | Apr 01, 2015 (144) |
| 37 | EVA_UK10K_TWINSUK | ss1668193611 | Apr 01, 2015 (144) |
| 38 | EVA_EXAC | ss1690012650 | Apr 01, 2015 (144) |
| 39 | EVA_MGP | ss1711265825 | Apr 01, 2015 (144) |
| 40 | ILLUMINA | ss1751988388 | Sep 08, 2015 (146) |
| 41 | ILLUMINA | ss1946289812 | Feb 12, 2016 (147) |
| 42 | ILLUMINA | ss1959285052 | Feb 12, 2016 (147) |
| 43 | HUMAN_LONGEVITY | ss2177161294 | Dec 20, 2016 (150) |
| 44 | ILLUMINA | ss2632748530 | Nov 08, 2017 (151) |
| 45 | ILLUMINA | ss2632748531 | Nov 08, 2017 (151) |
| 46 | ILLUMINA | ss2632748532 | Nov 08, 2017 (151) |
| 47 | ILLUMINA | ss2710717611 | Nov 08, 2017 (151) |
| 48 | GNOMAD | ss2738421815 | Nov 08, 2017 (151) |
| 49 | GNOMAD | ss2748441770 | Nov 08, 2017 (151) |
| 50 | GNOMAD | ss2892149307 | Nov 08, 2017 (151) |
| 51 | AFFY | ss2984920015 | Nov 08, 2017 (151) |
| 52 | AFFY | ss2985568283 | Nov 08, 2017 (151) |
| 53 | SWEGEN | ss3006969227 | Nov 08, 2017 (151) |
| 54 | ILLUMINA | ss3021264955 | Nov 08, 2017 (151) |
| 55 | CSIRBIOHTS | ss3029638045 | Nov 08, 2017 (151) |
| 56 | ILLUMINA | ss3625584987 | Oct 12, 2018 (152) |
| 57 | ILLUMINA | ss3626510127 | Oct 12, 2018 (152) |
| 58 | ILLUMINA | ss3630771764 | Oct 12, 2018 (152) |
| 59 | ILLUMINA | ss3632960406 | Oct 12, 2018 (152) |
| 60 | ILLUMINA | ss3633658057 | Oct 12, 2018 (152) |
| 61 | ILLUMINA | ss3634417924 | Oct 12, 2018 (152) |
| 62 | ILLUMINA | ss3635350327 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss3636102429 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3637101034 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3637867358 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3640125265 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3642869424 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3644542558 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3651623379 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3653690751 | Oct 12, 2018 (152) |
| 71 | EGCUT_WGS | ss3674380913 | Jul 13, 2019 (153) |
| 72 | EVA_DECODE | ss3690465145 | Jul 13, 2019 (153) |
| 73 | ILLUMINA | ss3725179549 | Jul 13, 2019 (153) |
| 74 | ACPOP | ss3737587065 | Jul 13, 2019 (153) |
| 75 | ILLUMINA | ss3744074677 | Jul 13, 2019 (153) |
| 76 | ILLUMINA | ss3744718893 | Jul 13, 2019 (153) |
| 77 | ILLUMINA | ss3772219249 | Jul 13, 2019 (153) |
| 78 | KHV_HUMAN_GENOMES | ss3813837034 | Jul 13, 2019 (153) |
| 79 | EVA | ss3824541099 | Apr 26, 2020 (154) |
| 80 | EVA | ss3825780790 | Apr 26, 2020 (154) |
| 81 | SGDP_PRJ | ss3874831498 | Apr 26, 2020 (154) |
| 82 | EVA | ss3986493498 | Apr 26, 2021 (155) |
| 83 | EVA | ss4017501608 | Apr 26, 2021 (155) |
| 84 | TOPMED | ss4862693646 | Apr 26, 2021 (155) |
| 85 | EVA | ss6253834358 | Nov 01, 2024 (157) |
| 86 | EVA | ss6307414006 | Nov 01, 2024 (157) |
| 87 | EVA | ss6404050396 | Nov 01, 2024 (157) |
| 88 | GNOMAD | ss6440428224 | Nov 01, 2024 (157) |
| 89 | GNOMAD | ss6859935590 | Nov 01, 2024 (157) |
| 90 | EVA | ss8237655813 | Nov 01, 2024 (157) |
| 91 | 1000G_HIGH_COVERAGE | ss8285094469 | Nov 01, 2024 (157) |
| 92 | EVA | ss8395333475 | Nov 01, 2024 (157) |
| 93 | HUGCELL_USP | ss8480552795 | Nov 01, 2024 (157) |
| 94 | EVA | ss8512473913 | Nov 01, 2024 (157) |
| 95 | 1000G_HIGH_COVERAGE | ss8579575172 | Nov 01, 2024 (157) |
| 96 | SANFORD_IMAGENETICS | ss8624255748 | Nov 01, 2024 (157) |
| 97 | SANFORD_IMAGENETICS | ss8649889765 | Nov 01, 2024 (157) |
| 98 | EVA | ss8824809645 | Nov 01, 2024 (157) |
| 99 | EVA | ss8847605670 | Nov 01, 2024 (157) |
| 100 | EVA | ss8880092859 | Nov 01, 2024 (157) |
| 101 | EVA | ss8941176033 | Nov 01, 2024 (157) |
| 102 | EVA | ss8979335380 | Nov 01, 2024 (157) |
| 103 | EVA | ss8982151877 | Nov 01, 2024 (157) |
| 104 | 1000Genomes | NC_000010.10 - 96740981 | Oct 12, 2018 (152) |
| 105 | 1000Genomes_30X | NC_000010.11 - 94981224 | Nov 01, 2024 (157) |
| 106 | The Avon Longitudinal Study of Parents and Children | NC_000010.10 - 96740981 | Oct 12, 2018 (152) |
| 107 | Genetic variation in the Estonian population | NC_000010.10 - 96740981 | Oct 12, 2018 (152) |
| 108 | ExAC | NC_000010.10 - 96740981 | Oct 12, 2018 (152) |
| 109 | FINRISK | NC_000010.10 - 96740981 | Apr 26, 2020 (154) |
| 110 | gnomAD v4 - Exomes | NC_000010.11 - 94981224 | Nov 01, 2024 (157) |
| 111 | gnomAD v4 - Genomes | NC_000010.11 - 94981224 | Nov 01, 2024 (157) |
| 112 | GO Exome Sequencing Project | NC_000010.10 - 96740981 | Oct 12, 2018 (152) |
| 113 | Genome of the Netherlands Release 5 | NC_000010.10 - 96740981 | Apr 26, 2020 (154) |
| 114 | HapMap | NC_000010.11 - 94981224 | Apr 26, 2020 (154) |
| 115 | Medical Genome Project healthy controls from Spanish population | NC_000010.10 - 96740981 | Apr 26, 2020 (154) |
| 116 | Northern Sweden | NC_000010.10 - 96740981 | Jul 13, 2019 (153) |
| 117 | PharmGKB Aggregated | NC_000010.11 - 94981224 | Apr 26, 2020 (154) |
| 118 | SGDP_PRJ | NC_000010.10 - 96740981 | Apr 26, 2020 (154) |
| 119 | TopMed | NC_000010.11 - 94981224 | Apr 26, 2021 (155) |
| 120 | UK 10K study - Twins | NC_000010.10 - 96740981 | Oct 12, 2018 (152) |
| 121 | ALFA | NC_000010.11 - 94981224 | Nov 01, 2024 (157) |
| 122 | ClinVar | RCV000787934.10 | Nov 01, 2024 (157) |
| 123 | ClinVar | RCV000788098.10 | Nov 01, 2024 (157) |
| 124 | ClinVar | RCV000788104.10 | Nov 01, 2024 (157) |
| 125 | ClinVar | RCV000835752.13 | 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) |
|---|---|
| rs60219528 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss480685451, ss482693776, ss491629977, ss1597479675, ss3642869424 | NC_000010.9:96730970:C:T | NC_000010.11:94981223:C:T | (self) |
| 51063032, 28349400, 20119161, 242325, 65949, 998780, 12641187, 381585, 10871930, 26848478, 28349400, ss224884753, ss342304168, ss480700957, ss481558910, ss482447195, ss485137555, ss491001673, ss491438636, ss534653390, ss779369329, ss781764474, ss783015078, ss832272509, ss832927217, ss834837654, ss987806380, ss1067514967, ss1338631395, ss1426411518, ss1584069488, ss1625199578, ss1668193611, ss1690012650, ss1711265825, ss1751988388, ss1946289812, ss1959285052, ss2632748530, ss2632748531, ss2632748532, ss2710717611, ss2738421815, ss2748441770, ss2892149307, ss2984920015, ss2985568283, ss3006969227, ss3021264955, ss3029638045, ss3625584987, ss3626510127, ss3630771764, ss3632960406, ss3633658057, ss3634417924, ss3635350327, ss3636102429, ss3637101034, ss3637867358, ss3640125265, ss3644542558, ss3651623379, ss3653690751, ss3674380913, ss3737587065, ss3744074677, ss3744718893, ss3772219249, ss3824541099, ss3825780790, ss3874831498, ss3986493498, ss4017501608, ss6253834358, ss6307414006, ss8395333475, ss8512473913, ss8624255748, ss8649889765, ss8824809645, ss8847605670, ss8941176033, ss8979335380, ss8982151877 | NC_000010.10:96740980:C:T | NC_000010.11:94981223:C:T | (self) |
| RCV000787934.10, RCV000788098.10, RCV000788104.10, RCV000835752.13, 67101107, 35750064, 387071379, 468412, 1151, 78239301, 9604494896, ss2177161294, ss3690465145, ss3725179549, ss3813837034, ss4862693646, ss6404050396, ss6440428224, ss6859935590, ss8237655813, ss8285094469, ss8480552795, ss8579575172, ss8880092859 | NC_000010.11:94981223:C:T | NC_000010.11:94981223:C:T | (self) |
| ss32475992, ss75248035, ss79314172, ss84158168, ss105440151, ss119898959, ss154239169, ss159415556, ss160586162, ss173489292, ss244292260 | NT_030059.13:47545444:C:T | NC_000010.11:94981223:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
36
citations for rs28371685
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 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 |
| 18752379 | Warfarin pharmacogenetics. | Limdi NA et al. | 2008 | Pharmacotherapy |
| 20150829 | Cytochrome P450 2C9-CYP2C9. | Van Booven D et al. | 2010 | Pharmacogenetics and genomics |
| 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 |
| 20709439 | Warfarin dosing in patients with impaired kidney function. | Limdi NA et al. | 2010 | American journal of kidney diseases |
| 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 |
| 21639946 | Genetic factors associated with patient-specific warfarin dose in ethnic Indonesians. | Suriapranata IM et al. | 2011 | BMC medical genetics |
| 21918509 | Pharmacogenomics: application to the management of cardiovascular disease. | Johnson JA et al. | 2011 | Clinical pharmacology and therapeutics |
| 22122181 | Role of pharmacogenomics in the management of traditional and novel oral anticoagulants. | Cavallari LH et al. | 2011 | Pharmacotherapy |
| 22329724 | Predicting warfarin dosage in European-Americans and African-Americans using DNA samples linked to an electronic health record. | Ramirez AH et al. | 2012 | Pharmacogenomics |
| 22491019 | Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes. | Martis S et al. | 2013 | The pharmacogenomics journal |
| 22552919 | Bioinformatics and variability in drug response: a protein structural perspective. | Lahti JL et al. | 2012 | Journal of the Royal Society, Interface |
| 22676711 | Pharmacogenomics of warfarin in populations of African descent. | Suarez-Kurtz G et al. | 2013 | British journal of clinical pharmacology |
| 23133420 | Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin. | Suarez-Kurtz G et al. | 2012 | Frontiers in pharmacology |
| 24018621 | Ethnicity-specific pharmacogenetics: the case of warfarin in African Americans. | Hernandez W et al. | 2014 | The pharmacogenomics journal |
| 24340040 | Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy. | Preissner SC et al. | 2013 | PloS one |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25714468 | A systematic approach to the reporting of medically relevant findings from whole genome sequencing. | McLaughlin HM et al. | 2014 | BMC medical genetics |
| 26745506 | A Novel Admixture-Based Pharmacogenetic Approach to Refine Warfarin Dosing in Caribbean Hispanics. | Duconge J et al. | 2016 | PloS one |
| 26785747 | Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan. | Iskakova AN et al. | 2016 | BMC genetics |
| 27453700 | Prediction of Warfarin Dose in Pediatric Patients: An Evaluation of the Predictive Performance of Several Models. | Marek E et al. | 2016 | The journal of pediatric pharmacology and therapeutics |
| 27767381 | The effect of SNPs in CYP450 in chloroquine/primaquine Plasmodium vivax malaria treatment. | Sortica VA et al. | 2016 | Pharmacogenomics |
| 29681089 | Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida. | Padula AM et al. | 2018 | American journal of medical genetics. Part A |
| 30486437 | Impact of CYP2C9 and VKORC1 Polymorphisms on Warfarin Sensitivity and Responsiveness in Jordanian Cardiovascular Patients during the Initiation Therapy. | Al-Eitan LN et al. | 2018 | Genes |
| 30758238 | Development and Cross-Validation of High-Resolution Melting Analysis-Based Cardiovascular Pharmacogenetics Genotyping Panel. | Langaee T et al. | 2019 | Genetic testing and molecular biomarkers |
| 31869433 | Genetic Factors Influencing Warfarin Dose in Black-African Patients: A Systematic Review and Meta-Analysis. | Asiimwe IG et al. | 2020 | Clinical pharmacology and therapeutics |
| 32380173 | Recommendations for Clinical Warfarin Genotyping Allele Selection: A Report of the Association for Molecular Pathology and the College of American Pathologists. | Pratt VM et al. | 2020 | The Journal of molecular diagnostics |
| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
| 34382722 | Profiling of warfarin pharmacokinetics-associated genetic variants: Black Africans portray unique genetic markers important for an African specific warfarin pharmacogenetics-dosing algorithm. | Ndadza A et al. | 2021 | Journal of thrombosis and haemostasis |
| 34621706 | Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform. | Kim B et al. | 2021 | Translational and clinical pharmacology |
| 34690761 | Effects of Cytochrome P450 and Transporter Polymorphisms on the Bioavailability and Safety of Dutasteride and Tamsulosin. | Villapalos-García G et al. | 2021 | Frontiers in pharmacology |
| 34958284 | Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes. | Muyambo S et al. | 2022 | Omics |
| 35089958 | Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population. | Goljan E et al. | 2022 | PloS one |
| 36164570 | Prevalence of exposure to pharmacogenetic drugs by the Saudis treated at the health care centers of the Ministry of National Guard. | Alshabeeb MA et al. | 2022 | Saudi pharmaceutical journal |
| 36210801 | A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients. | Asiimwe IG et al. | 2022 | Frontiers in pharmacology |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.