Name: rs2256871
Published: September 3, 2024
License: Open Access

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.

rs2256871

Current Build 157

Released September 3, 2024

Organism: Homo sapiens
Position: chr10:94949217 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.0019838 (2769/1395772, GnomAD_exomes)
G=0.024047 (6365/264690, TOPMED)
G=0.006626 (1338/201942, ALFA) (+ 12 more)
G=0.021771 (3249/149238, GnomAD_genomes)
G=0.006715 (810/120634, ExAC)
G=0.02676 (348/13006, GO-ESP)
G=0.0237 (152/6404, 1000G_30X)
G=0.0220 (110/5008, 1000G)
G=0.0003 (1/3854, ALSPAC)
G=0.0000 (0/3708, TWINSUK)
G=0.0009 (1/1134, Daghestan)
G=0.034 (12/356, PharmGKB)
G=0.030 (10/328, HapMap)
G=0.023 (5/216, Qatari)
A=0.44 (8/18, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CYP2C9 : Missense Variant
Publications: 13 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	201942	A=0.993374	G=0.006626	0.987145	0.000396	0.012459	32
European	Sub	158202	A=0.999235	G=0.000765	0.99847	0.0	0.00153	0
African	Sub	15350	A=0.92801	G=0.07199	0.860847	0.004821	0.134332	0
African Others	Sub	518	A=0.919	G=0.081	0.837838	0.0	0.162162	1
African American	Sub	14832	A=0.92833	G=0.07167	0.86165	0.004989	0.13336	0
Asian	Sub	3646	A=1.0000	G=0.0000	1.0	0.0	0.0	N/A
East Asian	Sub	2342	A=1.0000	G=0.0000	1.0	0.0	0.0	N/A
Other Asian	Sub	1304	A=1.0000	G=0.0000	1.0	0.0	0.0	N/A
Latin American 1	Sub	982	A=0.979	G=0.021	0.95723	0.0	0.04277	0
Latin American 2	Sub	1544	A=0.9981	G=0.0019	0.996114	0.0	0.003886	0
South Asian	Sub	5042	A=0.9996	G=0.0004	0.999207	0.0	0.000793	0
Other	Sub	17176	A=0.99499	G=0.00501	0.990335	0.000349	0.009315	20

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	1395772	A=0.9980162	G=0.0019838
gnomAD v4 - Exomes	European	Sub	1163182	A=0.9999226	G=0.0000774
gnomAD v4 - Exomes	South Asian	Sub	84408	A=0.99962	G=0.00038
gnomAD v4 - Exomes	American	Sub	43902	A=0.99674	G=0.00326
gnomAD v4 - Exomes	East Asian	Sub	39390	A=0.99997	G=0.00003
gnomAD v4 - Exomes	African	Sub	33184	A=0.92511	G=0.07489
gnomAD v4 - Exomes	Ashkenazi Jewish	Sub	25984	A=1.00000	G=0.00000
gnomAD v4 - Exomes	Middle Eastern	sub	5722	A=0.9969	G=0.0031
TopMed	Global	Study-wide	264690	A=0.975953	G=0.024047
Allele Frequency Aggregator	Total	Global	201942	A=0.993374	G=0.006626
Allele Frequency Aggregator	European	Sub	158202	A=0.999235	G=0.000765
Allele Frequency Aggregator	Other	Sub	17176	A=0.99499	G=0.00501
Allele Frequency Aggregator	African	Sub	15350	A=0.92801	G=0.07199
Allele Frequency Aggregator	South Asian	Sub	5042	A=0.9996	G=0.0004
Allele Frequency Aggregator	Asian	Sub	3646	A=1.0000	G=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	1544	A=0.9981	G=0.0019
Allele Frequency Aggregator	Latin American 1	Sub	982	A=0.979	G=0.021
gnomAD v4 - Genomes	Global	Study-wide	149238	A=0.978229	G=0.021771
gnomAD v4 - Genomes	European	Sub	78630	A=0.99978	G=0.00022
gnomAD v4 - Genomes	African	Sub	41550	A=0.92477	G=0.07523
gnomAD v4 - Genomes	American	Sub	15278	A=0.99326	G=0.00674
gnomAD v4 - Genomes	East Asian	Sub	5182	A=1.0000	G=0.0000
gnomAD v4 - Genomes	South Asian	Sub	4834	A=0.9998	G=0.0002
gnomAD v4 - Genomes	Ashkenazi Jewish	Sub	3470	A=1.0000	G=0.0000
gnomAD v4 - Genomes	Middle Eastern	sub	294	A=0.993	G=0.007
ExAC	Global	Study-wide	120634	A=0.993285	G=0.006715
ExAC	Europe	Sub	73070	A=0.99985	G=0.00015
ExAC	Asian	Sub	25036	A=0.99988	G=0.00012
ExAC	American	Sub	11382	A=0.99807	G=0.00193
ExAC	African	Sub	10242	A=0.92462	G=0.07538
ExAC	Other	Sub	904	A=0.998	G=0.002
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.97324	G=0.02676
GO Exome Sequencing Project	European American	Sub	8600	A=0.9998	G=0.0002
GO Exome Sequencing Project	African American	Sub	4406	A=0.9215	G=0.0785
1000Genomes_30X	Global	Study-wide	6404	A=0.9763	G=0.0237
1000Genomes_30X	African	Sub	1786	A=0.9166	G=0.0834
1000Genomes_30X	Europe	Sub	1266	A=0.9984	G=0.0016
1000Genomes_30X	South Asian	Sub	1202	A=1.0000	G=0.0000
1000Genomes_30X	East Asian	Sub	1170	A=1.0000	G=0.0000
1000Genomes_30X	American	Sub	980	A=0.999	G=0.001
1000Genomes	Global	Study-wide	5008	A=0.9780	G=0.0220
1000Genomes	African	Sub	1322	A=0.9183	G=0.0817
1000Genomes	East Asian	Sub	1008	A=1.0000	G=0.0000
1000Genomes	Europe	Sub	1006	A=0.9990	G=0.0010
1000Genomes	South Asian	Sub	978	A=1.000	G=0.000
1000Genomes	American	Sub	694	A=0.999	G=0.001
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9997	G=0.0003
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=1.0000	G=0.0000
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	A=0.9991	G=0.0009
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=1.000	G=0.000
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	A=0.993	G=0.007
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=1.000	G=0.000
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=1.000	G=0.000
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=1.00	G=0.00
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=1.00	G=0.00
PharmGKB Aggregated	Global	Study-wide	356	A=0.966	G=0.034
PharmGKB Aggregated	PA149571978	Sub	356	A=0.966	G=0.034
HapMap	Global	Study-wide	328	A=0.970	G=0.030
HapMap	African	Sub	120	A=0.925	G=0.075
HapMap	American	Sub	120	A=0.992	G=0.008
HapMap	Asian	Sub	88	A=1.00	G=0.00
Qatari	Global	Study-wide	216	A=0.977	G=0.023
SGDP_PRJ	Global	Study-wide	18	A=0.44	G=0.56

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.94949217A>G
GRCh38.p14 chr 10	NC_000010.11:g.94949217A>T
GRCh37.p13 chr 10	NC_000010.10:g.96708974A>G
GRCh37.p13 chr 10	NC_000010.10:g.96708974A>T
CYP2C9 RefSeqGene (LRG_1195)	NG_008385.2:g.16060A>G
CYP2C9 RefSeqGene (LRG_1195)	NG_008385.2:g.16060A>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.752A>G	H [CAC] > R [CGC]	Coding Sequence Variant
cytochrome P450 2C9	NP_000762.2:p.His251Arg	H (His) > R (Arg)	Missense Variant
CYP2C9 transcript	NM_000771.4:c.752A>T	H [CAC] > L [CTC]	Coding Sequence Variant
cytochrome P450 2C9	NP_000762.2:p.His251Leu	H (His) > L (Leu)	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.

Allele: G (allele ID: 701489 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000952677.5	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	A=	G	T
GRCh38.p14 chr 10	NC_000010.11:g.94949217=	NC_000010.11:g.94949217A>G	NC_000010.11:g.94949217A>T
GRCh37.p13 chr 10	NC_000010.10:g.96708974=	NC_000010.10:g.96708974A>G	NC_000010.10:g.96708974A>T
CYP2C9 RefSeqGene (LRG_1195)	NG_008385.2:g.16060=	NG_008385.2:g.16060A>G	NG_008385.2:g.16060A>T
CYP2C9 transcript	NM_000771.4:c.752=	NM_000771.4:c.752A>G	NM_000771.4:c.752A>T
CYP2C9 transcript	NM_000771.3:c.752=	NM_000771.3:c.752A>G	NM_000771.3:c.752A>T
cytochrome P450 2C9	NP_000762.2:p.His251=	NP_000762.2:p.His251Arg	NP_000762.2:p.His251Leu

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#.

113 SubSNP, 17 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3468964	Sep 28, 2001 (100)
2	SC_JCM	ss3955136	Sep 28, 2001 (100)
3	EGP_SNPS	ss12588508	Dec 05, 2003 (119)
4	SC_SNP	ss12978291	Dec 05, 2003 (119)
5	CSHL-HAPMAP	ss17397460	Feb 27, 2004 (120)
6	BIOVENTURES	ss32475985	May 24, 2005 (125)
7	ABI	ss38550708	Mar 14, 2006 (126)
8	PERLEGEN	ss69088146	May 18, 2007 (127)
9	AFFY	ss74811714	Aug 16, 2007 (128)
10	CCHMC-CAE-PGCORE	ss79314165	Dec 16, 2007 (130)
11	PHARMGKB_AB_DME	ss84158193	Dec 16, 2007 (130)
12	SNP500CANCER	ss105439453	Feb 06, 2009 (130)
13	ILLUMINA	ss153895725	Dec 01, 2009 (131)
14	ILLUMINA	ss159373566	Dec 01, 2009 (131)
15	SEATTLESEQ	ss159721127	Dec 01, 2009 (131)
16	ILLUMINA	ss160523275	Dec 01, 2009 (131)
17	ENSEMBL	ss161373614	Dec 01, 2009 (131)
18	ILLUMINA	ss173222387	Jul 04, 2010 (132)
19	BUSHMAN	ss201886989	Jul 04, 2010 (132)
20	1000GENOMES	ss224884686	Jul 14, 2010 (132)
21	1000GENOMES	ss235293074	Jul 15, 2010 (132)
22	ILLUMINA	ss244288774	Jul 04, 2010 (132)
23	NHLBI-ESP	ss342304163	May 09, 2011 (134)
24	ILLUMINA	ss481307410	Sep 08, 2015 (146)
25	ILLUMINA	ss482396388	May 04, 2012 (137)
26	ILLUMINA	ss482693755	May 04, 2012 (137)
27	1000GENOMES	ss491001669	May 04, 2012 (137)
28	EXOME_CHIP	ss491438633	May 04, 2012 (137)
29	CLINSEQ_SNP	ss491629973	May 04, 2012 (137)
30	ILLUMINA	ss534631002	Sep 08, 2015 (146)
31	TISHKOFF	ss562143500	Apr 25, 2013 (138)
32	ILLUMINA	ss779122640	Sep 08, 2015 (146)
33	ILLUMINA	ss780889008	Aug 21, 2014 (142)
34	ILLUMINA	ss781747588	Sep 08, 2015 (146)
35	ILLUMINA	ss783575254	Aug 21, 2014 (142)
36	ILLUMINA	ss832885379	Jul 13, 2019 (153)
37	ILLUMINA	ss834587013	Sep 08, 2015 (146)
38	JMKIDD_LAB	ss974475597	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1067514966	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1077216596	Aug 21, 2014 (142)
41	1000GENOMES	ss1338630262	Aug 21, 2014 (142)
42	HAMMER_LAB	ss1397589480	Sep 08, 2015 (146)
43	EVA_DECODE	ss1597479414	Apr 01, 2015 (144)
44	EVA_UK10K_ALSPAC	ss1625199083	Apr 01, 2015 (144)
45	EVA_UK10K_TWINSUK	ss1668193116	Apr 01, 2015 (144)
46	EVA_EXAC	ss1690012558	Apr 01, 2015 (144)
47	ILLUMINA	ss1751988364	Sep 08, 2015 (146)
48	HAMMER_LAB	ss1806520755	Sep 08, 2015 (146)
49	ILLUMINA	ss1917849830	Feb 12, 2016 (147)
50	WEILL_CORNELL_DGM	ss1931172289	Feb 12, 2016 (147)
51	ILLUMINA	ss1946289804	Feb 12, 2016 (147)
52	ILLUMINA	ss1946289805	Feb 12, 2016 (147)
53	ILLUMINA	ss1959285038	Feb 12, 2016 (147)
54	ILLUMINA	ss1959285039	Feb 12, 2016 (147)
55	HUMAN_LONGEVITY	ss2177159039	Dec 20, 2016 (150)
56	ILLUMINA	ss2632748498	Nov 08, 2017 (151)
57	ILLUMINA	ss2710717591	Nov 08, 2017 (151)
58	GNOMAD	ss2738421679	Nov 08, 2017 (151)
59	GNOMAD	ss2748441734	Nov 08, 2017 (151)
60	GNOMAD	ss2892146277	Nov 08, 2017 (151)
61	AFFY	ss2984920010	Nov 08, 2017 (151)
62	AFFY	ss2985568281	Nov 08, 2017 (151)
63	ILLUMINA	ss3021264938	Nov 08, 2017 (151)
64	ILLUMINA	ss3021264939	Nov 08, 2017 (151)
65	CSIRBIOHTS	ss3029638041	Nov 08, 2017 (151)
66	ILLUMINA	ss3625584981	Oct 12, 2018 (152)
67	ILLUMINA	ss3626510081	Oct 12, 2018 (152)
68	ILLUMINA	ss3626510082	Oct 12, 2018 (152)
69	ILLUMINA	ss3630771731	Oct 12, 2018 (152)
70	ILLUMINA	ss3634417900	Oct 12, 2018 (152)
71	ILLUMINA	ss3636102365	Oct 12, 2018 (152)
72	ILLUMINA	ss3637867328	Oct 12, 2018 (152)
73	ILLUMINA	ss3640125241	Oct 12, 2018 (152)
74	ILLUMINA	ss3644542550	Oct 12, 2018 (152)
75	ILLUMINA	ss3644542551	Oct 12, 2018 (152)
76	ILLUMINA	ss3651623363	Oct 12, 2018 (152)
77	ILLUMINA	ss3651623364	Oct 12, 2018 (152)
78	ILLUMINA	ss3653690746	Oct 12, 2018 (152)
79	EVA_DECODE	ss3690464696	Jul 13, 2019 (153)
80	ILLUMINA	ss3725179536	Jul 13, 2019 (153)
81	ILLUMINA	ss3744074672	Jul 13, 2019 (153)
82	ILLUMINA	ss3744369921	Jul 13, 2019 (153)
83	ILLUMINA	ss3744718869	Jul 13, 2019 (153)
84	ILLUMINA	ss3772219225	Jul 13, 2019 (153)
85	KHV_HUMAN_GENOMES	ss3813836693	Jul 13, 2019 (153)
86	EVA	ss3824541079	Apr 26, 2020 (154)
87	EVA	ss3825780785	Apr 26, 2020 (154)
88	SGDP_PRJ	ss3874830936	Apr 26, 2020 (154)
89	FSA-LAB	ss3983983398	Apr 26, 2021 (155)
90	EVA	ss3984449124	Apr 26, 2021 (155)
91	EVA	ss3984449125	Apr 26, 2021 (155)
92	EVA	ss3986493494	Apr 26, 2021 (155)
93	EVA	ss4017501581	Apr 26, 2021 (155)
94	TOPMED	ss4862683961	Apr 26, 2021 (155)
95	EVA	ss6253833233	Oct 30, 2024 (157)
96	EVA	ss6307413500	Oct 30, 2024 (157)
97	YEGNASUBRAMANIAN_LAB	ss6343188242	Oct 30, 2024 (157)
98	EVA	ss6349787591	Oct 30, 2024 (157)
99	GNOMAD	ss6440427537	Oct 30, 2024 (157)
100	GNOMAD	ss6859927315	Oct 30, 2024 (157)
101	1000G_HIGH_COVERAGE	ss8285093538	Oct 30, 2024 (157)
102	EVA	ss8395332020	Oct 30, 2024 (157)
103	HUGCELL_USP	ss8480552151	Oct 30, 2024 (157)
104	EVA	ss8512473912	Oct 30, 2024 (157)
105	1000G_HIGH_COVERAGE	ss8579573675	Oct 30, 2024 (157)
106	SANFORD_IMAGENETICS	ss8624255737	Oct 30, 2024 (157)
107	SANFORD_IMAGENETICS	ss8649889221	Oct 30, 2024 (157)
108	EVA	ss8847378123	Oct 30, 2024 (157)
109	EVA	ss8847605661	Oct 30, 2024 (157)
110	EVA	ss8880091889	Oct 30, 2024 (157)
111	EVA	ss8941175549	Oct 30, 2024 (157)
112	EVA	ss8979335365	Oct 30, 2024 (157)
113	EVA	ss8982151866	Oct 30, 2024 (157)
114	1000Genomes	NC_000010.10 - 96708974	Oct 12, 2018 (152)
115	1000Genomes_30X	NC_000010.11 - 94949217	Oct 30, 2024 (157)
116	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 96708974	Oct 12, 2018 (152)
117	Genome-wide autozygosity in Daghestan	NC_000010.9 - 96698964	Apr 26, 2020 (154)
118	ExAC	NC_000010.10 - 96708974	Oct 12, 2018 (152)
119	gnomAD v4 - Exomes	NC_000010.11 - 94949217	Oct 30, 2024 (157)
120	gnomAD v4 - Genomes	NC_000010.11 - 94949217	Oct 30, 2024 (157)
121	GO Exome Sequencing Project	NC_000010.10 - 96708974	Oct 12, 2018 (152)
122	HapMap	NC_000010.11 - 94949217	Apr 26, 2020 (154)
123	MxGDAR/Encodat-PGx Submission ignored due to conflicting rows: Row 2125 (NC_000010.10:96708973:A:G 12/3260) Row 2126 (NC_000010.10:96708973:A:G 12/3298)	-	Apr 26, 2021 (155)
124	MxGDAR/Encodat-PGx Submission ignored due to conflicting rows: Row 2125 (NC_000010.10:96708973:A:G 12/3260) Row 2126 (NC_000010.10:96708973:A:G 12/3298)	-	Apr 26, 2021 (155)
125	PharmGKB Aggregated	NC_000010.11 - 94949217	Apr 26, 2020 (154)
126	Qatari	NC_000010.10 - 96708974	Apr 26, 2020 (154)
127	SGDP_PRJ	NC_000010.10 - 96708974	Apr 26, 2020 (154)
128	TopMed	NC_000010.11 - 94949217	Apr 26, 2021 (155)
129	UK 10K study - Twins	NC_000010.10 - 96708974	Oct 12, 2018 (152)
130	ALFA	NC_000010.11 - 94949217	Oct 30, 2024 (157)
131	ClinVar	RCV000952677.5	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)
rs52824334	Sep 21, 2007 (128)
rs61450779	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
60910, ss201886989, ss482693755, ss491629973, ss1397589480, ss1597479414	NC_000010.9:96698963:A:G	NC_000010.11:94949216:A:G	(self)
51061862, 28348854, 242225, 998760, 13214219, 26847916, 28348854, ss224884686, ss235293074, ss342304163, ss481307410, ss482396388, ss491001669, ss491438633, ss534631002, ss562143500, ss779122640, ss780889008, ss781747588, ss783575254, ss832885379, ss834587013, ss974475597, ss1067514966, ss1077216596, ss1338630262, ss1625199083, ss1668193116, ss1690012558, ss1751988364, ss1806520755, ss1917849830, ss1931172289, ss1946289804, ss1946289805, ss1959285038, ss1959285039, ss2632748498, ss2710717591, ss2738421679, ss2748441734, ss2892146277, ss2984920010, ss2985568281, ss3021264938, ss3021264939, ss3029638041, ss3625584981, ss3626510081, ss3626510082, ss3630771731, ss3634417900, ss3636102365, ss3637867328, ss3640125241, ss3644542550, ss3644542551, ss3651623363, ss3651623364, ss3653690746, ss3744074672, ss3744369921, ss3744718869, ss3772219225, ss3824541079, ss3825780785, ss3874830936, ss3983983398, ss3984449124, ss3984449125, ss3986493494, ss4017501581, ss6253833233, ss6307413500, ss6343188242, ss8395332020, ss8512473912, ss8624255737, ss8649889221, ss8847378123, ss8847605661, ss8941175549, ss8979335365, ss8982151866	NC_000010.10:96708973:A:G	NC_000010.11:94949216:A:G	(self)
RCV000952677.5, 67099610, 35749377, 387063100, 468370, 1150, 78229616, 8402199069, ss2177159039, ss3690464696, ss3725179536, ss3813836693, ss4862683961, ss6440427537, ss6859927315, ss8285093538, ss8480552151, ss8579573675, ss8880091889	NC_000010.11:94949216:A:G	NC_000010.11:94949216:A:G	(self)
ss12978291	NT_030059.10:15147531:A:G	NC_000010.11:94949216:A:G	(self)
ss17397460	NT_030059.11:15457499:A:G	NC_000010.11:94949216:A:G	(self)
ss3468964, ss3955136, ss12588508, ss32475985, ss38550708, ss69088146, ss74811714, ss79314165, ss84158193, ss105439453, ss153895725, ss159373566, ss159721127, ss160523275, ss161373614, ss173222387, ss244288774	NT_030059.13:47513437:A:G	NC_000010.11:94949216:A:G	(self)
ss6349787591	NC_000010.10:96708973:A:T	NC_000010.11:94949216:A:T

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

13 citations for rs2256871

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
20716240	New genetic variant that might improve warfarin dose prediction in African Americans.	Schelleman H et al.	2010	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
22676711	Pharmacogenomics of warfarin in populations of African descent.	Suarez-Kurtz G et al.	2013	British journal of clinical pharmacology
24340040	Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.	Preissner SC et al.	2013	PloS one
24787444	An ontology-based, mobile-optimized system for pharmacogenomic decision support at the point-of-care.	Miñarro-Giménez JA et al.	2014	PloS one
28603633	In vitro metabolism of exemestane by hepatic cytochrome P450s: impact of nonsynonymous polymorphisms on formation of the active metabolite 17β-dihydroexemestane.	Peterson A et al.	2017	Pharmacology research & perspectives
28771511	Exploring public genomics data for population pharmacogenomics.	Lakiotaki K et al.	2017	PloS one
34621706	Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.	Kim B et al.	2021	Translational and clinical 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
35761855	Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective.	Nthontho KC et al.	2022	Pharmacogenomics and personalized medicine
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

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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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).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs2256871