Name: rs9982601
Published: September 21, 2022
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.

rs9982601

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:34226827 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.150274 (39776/264690, TOPMED)
T=0.126298 (22964/181824, ALFA)
T=0.156774 (21964/140100, GnomAD) (+ 18 more)
T=0.14131 (11118/78676, PAGE_STUDY)
T=0.1145 (733/6404, 1000G_30x)
T=0.1100 (551/5008, 1000G)
T=0.1498 (671/4480, Estonian)
T=0.1279 (493/3854, ALSPAC)
T=0.1303 (483/3708, TWINSUK)
T=0.0003 (1/2922, KOREAN)
T=0.1048 (117/1116, Daghestan)
T=0.132 (132/998, GoNL)
T=0.172 (103/600, NorthernSweden)
T=0.156 (48/308, HapMap)
T=0.153 (33/216, Qatari)
T=0.005 (1/216, Vietnamese)
C=0.48 (45/94, SGDP_PRJ)
T=0.29 (20/68, Ancient Sardinia)
T=0.05 (2/40, GENOME_DK)
C=0.5 (5/10, Siberian)
T=0.5 (5/10, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 41 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	182040	C=0.873731	G=0.000000, T=0.126269
European	Sub	162124	C=0.871530	G=0.000000, T=0.128470
African	Sub	6184	C=0.8234	G=0.0000, T=0.1766
African Others	Sub	224	C=0.826	G=0.000, T=0.174
African American	Sub	5960	C=0.8233	G=0.0000, T=0.1767
Asian	Sub	3350	C=1.0000	G=0.0000, T=0.0000
East Asian	Sub	2698	C=1.0000	G=0.0000, T=0.0000
Other Asian	Sub	652	C=1.000	G=0.000, T=0.000
Latin American 1	Sub	410	C=0.905	G=0.000, T=0.095
Latin American 2	Sub	938	C=0.957	G=0.000, T=0.043
South Asian	Sub	284	C=0.954	G=0.000, T=0.046
Other	Sub	8750	C=0.8887	G=0.0000, T=0.1113

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
TopMed	Global	Study-wide	264690	C=0.849726	T=0.150274
Allele Frequency Aggregator	Total	Global	181824	C=0.873702	G=0.000000, T=0.126298
Allele Frequency Aggregator	European	Sub	161944	C=0.871511	G=0.000000, T=0.128489
Allele Frequency Aggregator	Other	Sub	8728	C=0.8885	G=0.0000, T=0.1115
Allele Frequency Aggregator	African	Sub	6170	C=0.8232	G=0.0000, T=0.1768
Allele Frequency Aggregator	Asian	Sub	3350	C=1.0000	G=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	938	C=0.957	G=0.000, T=0.043
Allele Frequency Aggregator	Latin American 1	Sub	410	C=0.905	G=0.000, T=0.095
Allele Frequency Aggregator	South Asian	Sub	284	C=0.954	G=0.000, T=0.046
gnomAD - Genomes	Global	Study-wide	140100	C=0.843226	T=0.156774
gnomAD - Genomes	European	Sub	75896	C=0.86593	T=0.13407
gnomAD - Genomes	African	Sub	41950	C=0.76827	T=0.23173
gnomAD - Genomes	American	Sub	13644	C=0.89827	T=0.10173
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.8809	T=0.1191
gnomAD - Genomes	East Asian	Sub	3134	C=1.0000	T=0.0000
gnomAD - Genomes	Other	Sub	2152	C=0.8680	T=0.1320
The PAGE Study	Global	Study-wide	78676	C=0.85869	T=0.14131
The PAGE Study	AfricanAmerican	Sub	32504	C=0.77184	T=0.22816
The PAGE Study	Mexican	Sub	10810	C=0.93830	T=0.06170
The PAGE Study	Asian	Sub	8312	C=0.9988	T=0.0012
The PAGE Study	PuertoRican	Sub	7918	C=0.8716	T=0.1284
The PAGE Study	NativeHawaiian	Sub	4530	C=0.9638	T=0.0362
The PAGE Study	Cuban	Sub	4230	C=0.8660	T=0.1340
The PAGE Study	Dominican	Sub	3826	C=0.8170	T=0.1830
The PAGE Study	CentralAmerican	Sub	2448	C=0.9208	T=0.0792
The PAGE Study	SouthAmerican	Sub	1982	C=0.9203	T=0.0797
The PAGE Study	NativeAmerican	Sub	1260	C=0.8595	T=0.1405
The PAGE Study	SouthAsian	Sub	856	C=0.944	T=0.056
1000Genomes_30x	Global	Study-wide	6404	C=0.8855	T=0.1145
1000Genomes_30x	African	Sub	1786	C=0.7727	T=0.2273
1000Genomes_30x	Europe	Sub	1266	C=0.8689	T=0.1311
1000Genomes_30x	South Asian	Sub	1202	C=0.9484	T=0.0516
1000Genomes_30x	East Asian	Sub	1170	C=0.9974	T=0.0026
1000Genomes_30x	American	Sub	980	C=0.902	T=0.098
1000Genomes	Global	Study-wide	5008	C=0.8900	T=0.1100
1000Genomes	African	Sub	1322	C=0.7716	T=0.2284
1000Genomes	East Asian	Sub	1008	C=0.9980	T=0.0020
1000Genomes	Europe	Sub	1006	C=0.8777	T=0.1223
1000Genomes	South Asian	Sub	978	C=0.946	T=0.054
1000Genomes	American	Sub	694	C=0.898	T=0.102
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8502	T=0.1498
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8721	T=0.1279
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8697	T=0.1303
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9997	T=0.0003
Genome-wide autozygosity in Daghestan	Global	Study-wide	1116	C=0.8952	T=0.1048
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.889	T=0.111
Genome-wide autozygosity in Daghestan	Near_East	Sub	138	C=0.870	T=0.130
Genome-wide autozygosity in Daghestan	Central Asia	Sub	118	C=0.966	T=0.034
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.833	T=0.167
Genome-wide autozygosity in Daghestan	South Asian	Sub	88	C=0.95	T=0.05
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.92	T=0.08
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.868	T=0.132
Northern Sweden	ACPOP	Study-wide	600	C=0.828	T=0.172
HapMap	Global	Study-wide	308	C=0.844	T=0.156
HapMap	African	Sub	116	C=0.767	T=0.233
HapMap	American	Sub	102	C=0.794	T=0.206
HapMap	Asian	Sub	90	C=1.00	T=0.00
Qatari	Global	Study-wide	216	C=0.847	T=0.153
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.995	T=0.005
SGDP_PRJ	Global	Study-wide	94	C=0.48	T=0.52
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	68	C=0.71	T=0.29
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	T=0.05
Siberian	Global	Study-wide	10	C=0.5	T=0.5

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 21	NC_000021.9:g.34226827C>G
GRCh38.p14 chr 21	NC_000021.9:g.34226827C>T
GRCh37.p13 chr 21	NC_000021.8:g.35599128C>G
GRCh37.p13 chr 21	NC_000021.8:g.35599128C>T

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.

Not Reported in ClinVar

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=	G	T
GRCh38.p14 chr 21	NC_000021.9:g.34226827=	NC_000021.9:g.34226827C>G	NC_000021.9:g.34226827C>T
GRCh37.p13 chr 21	NC_000021.8:g.35599128=	NC_000021.8:g.35599128C>G	NC_000021.8:g.35599128C>T

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#.

88 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WUGSC_SSAHASNP	ss13825477	Dec 05, 2003 (119)
2	PERLEGEN	ss69252865	May 16, 2007 (127)
3	HGSV	ss80714629	Dec 14, 2007 (130)
4	1000GENOMES	ss112446171	Jan 25, 2009 (130)
5	1000GENOMES	ss113847760	Jan 25, 2009 (130)
6	ILLUMINA-UK	ss117513939	Feb 14, 2009 (130)
7	COMPLETE_GENOMICS	ss167954638	Jul 04, 2010 (132)
8	COMPLETE_GENOMICS	ss169391824	Jul 04, 2010 (132)
9	1000GENOMES	ss228548028	Jul 14, 2010 (132)
10	1000GENOMES	ss237970409	Jul 15, 2010 (132)
11	ILLUMINA	ss410961439	Sep 17, 2011 (135)
12	PAGE_STUDY	ss469415494	May 04, 2012 (137)
13	ILLUMINA	ss481483785	May 04, 2012 (137)
14	ILLUMINA	ss484263806	May 04, 2012 (137)
15	EXOME_CHIP	ss491565424	May 04, 2012 (137)
16	ILLUMINA	ss534290084	Sep 08, 2015 (146)
17	TISHKOFF	ss566476950	Apr 25, 2013 (138)
18	ILLUMINA	ss779875987	Sep 08, 2015 (146)
19	ILLUMINA	ss780687696	Sep 08, 2015 (146)
20	ILLUMINA	ss781492769	Sep 08, 2015 (146)
21	ILLUMINA	ss783361263	Sep 08, 2015 (146)
22	ILLUMINA	ss835353363	Sep 08, 2015 (146)
23	EVA-GONL	ss995089081	Aug 21, 2014 (142)
24	JMKIDD_LAB	ss1082477507	Aug 21, 2014 (142)
25	1000GENOMES	ss1366184855	Aug 21, 2014 (142)
26	HAMMER_LAB	ss1397779369	Sep 08, 2015 (146)
27	DDI	ss1429175619	Apr 01, 2015 (144)
28	EVA_GENOME_DK	ss1579651408	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1639503561	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1682497594	Apr 01, 2015 (144)
31	EVA_DECODE	ss1699159067	Apr 01, 2015 (144)
32	ILLUMINA	ss1752406503	Sep 08, 2015 (146)
33	HAMMER_LAB	ss1809672690	Sep 08, 2015 (146)
34	ILLUMINA	ss1917951118	Feb 12, 2016 (147)
35	WEILL_CORNELL_DGM	ss1938639989	Feb 12, 2016 (147)
36	ILLUMINA	ss1946563947	Feb 12, 2016 (147)
37	ILLUMINA	ss1959950489	Feb 12, 2016 (147)
38	JJLAB	ss2030091385	Sep 14, 2016 (149)
39	ILLUMINA	ss2094810675	Dec 20, 2016 (150)
40	ILLUMINA	ss2095118796	Dec 20, 2016 (150)
41	USC_VALOUEV	ss2158695760	Dec 20, 2016 (150)
42	HUMAN_LONGEVITY	ss2245569179	Dec 20, 2016 (150)
43	ILLUMINA	ss2633844696	Nov 08, 2017 (151)
44	ILLUMINA	ss2635109384	Nov 08, 2017 (151)
45	GNOMAD	ss2971514409	Nov 08, 2017 (151)
46	AFFY	ss2985227010	Nov 08, 2017 (151)
47	AFFY	ss2985844655	Nov 08, 2017 (151)
48	SWEGEN	ss3018848901	Nov 08, 2017 (151)
49	ILLUMINA	ss3022156488	Nov 08, 2017 (151)
50	BIOINF_KMB_FNS_UNIBA	ss3028884288	Nov 08, 2017 (151)
51	CSHL	ss3352705654	Nov 08, 2017 (151)
52	ILLUMINA	ss3628473878	Oct 12, 2018 (152)
53	ILLUMINA	ss3628473879	Oct 12, 2018 (152)
54	ILLUMINA	ss3631798454	Oct 12, 2018 (152)
55	ILLUMINA	ss3634853370	Oct 12, 2018 (152)
56	ILLUMINA	ss3640560669	Oct 12, 2018 (152)
57	ILLUMINA	ss3642202600	Oct 12, 2018 (152)
58	ILLUMINA	ss3644791859	Oct 12, 2018 (152)
59	ILLUMINA	ss3652615850	Oct 12, 2018 (152)
60	ILLUMINA	ss3652615851	Oct 12, 2018 (152)
61	ILLUMINA	ss3653995682	Oct 12, 2018 (152)
62	EGCUT_WGS	ss3685424943	Jul 13, 2019 (153)
63	EVA_DECODE	ss3707679378	Jul 13, 2019 (153)
64	ILLUMINA	ss3725945456	Jul 13, 2019 (153)
65	ACPOP	ss3743707668	Jul 13, 2019 (153)
66	ILLUMINA	ss3744498080	Jul 13, 2019 (153)
67	ILLUMINA	ss3745153230	Jul 13, 2019 (153)
68	EVA	ss3759074825	Jul 13, 2019 (153)
69	PAGE_CC	ss3772071720	Jul 13, 2019 (153)
70	ILLUMINA	ss3772649296	Jul 13, 2019 (153)
71	KHV_HUMAN_GENOMES	ss3822242063	Jul 13, 2019 (153)
72	EVA	ss3835859876	Apr 27, 2020 (154)
73	SGDP_PRJ	ss3889947330	Apr 27, 2020 (154)
74	KRGDB	ss3940303934	Apr 27, 2020 (154)
75	EVA	ss3985901576	Apr 26, 2021 (155)
76	TOPMED	ss5100783013	Apr 26, 2021 (155)
77	EVA	ss5237612258	Apr 26, 2021 (155)
78	1000G_HIGH_COVERAGE	ss5310131205	Oct 13, 2022 (156)
79	EVA	ss5439723562	Oct 13, 2022 (156)
80	HUGCELL_USP	ss5502185737	Oct 13, 2022 (156)
81	1000G_HIGH_COVERAGE	ss5617233873	Oct 13, 2022 (156)
82	SANFORD_IMAGENETICS	ss5624495560	Oct 13, 2022 (156)
83	SANFORD_IMAGENETICS	ss5663962241	Oct 13, 2022 (156)
84	EVA	ss5839003849	Oct 13, 2022 (156)
85	EVA	ss5847512983	Oct 13, 2022 (156)
86	EVA	ss5892254740	Oct 13, 2022 (156)
87	EVA	ss5958854908	Oct 13, 2022 (156)
88	EVA	ss5979628081	Oct 13, 2022 (156)
89	1000Genomes	NC_000021.8 - 35599128	Oct 12, 2018 (152)
90	1000Genomes_30x	NC_000021.9 - 34226827	Oct 13, 2022 (156)
91	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 35599128	Oct 12, 2018 (152)
92	Genome-wide autozygosity in Daghestan	NC_000021.7 - 34520998	Apr 27, 2020 (154)
93	Genetic variation in the Estonian population	NC_000021.8 - 35599128	Oct 12, 2018 (152)
94	The Danish reference pan genome	NC_000021.8 - 35599128	Apr 27, 2020 (154)
95	gnomAD - Genomes	NC_000021.9 - 34226827	Apr 26, 2021 (155)
96	Genome of the Netherlands Release 5	NC_000021.8 - 35599128	Apr 27, 2020 (154)
97	HapMap	NC_000021.9 - 34226827	Apr 27, 2020 (154)
98	KOREAN population from KRGDB	NC_000021.8 - 35599128	Apr 27, 2020 (154)
99	Northern Sweden	NC_000021.8 - 35599128	Jul 13, 2019 (153)
100	The PAGE Study	NC_000021.9 - 34226827	Jul 13, 2019 (153)
101	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000021.8 - 35599128	Apr 26, 2021 (155)
102	Qatari	NC_000021.8 - 35599128	Apr 27, 2020 (154)
103	SGDP_PRJ	NC_000021.8 - 35599128	Apr 27, 2020 (154)
104	Siberian	NC_000021.8 - 35599128	Apr 27, 2020 (154)
105	TopMed	NC_000021.9 - 34226827	Apr 26, 2021 (155)
106	UK 10K study - Twins	NC_000021.8 - 35599128	Oct 12, 2018 (152)
107	A Vietnamese Genetic Variation Database	NC_000021.8 - 35599128	Jul 13, 2019 (153)
108	ALFA	NC_000021.9 - 34226827	Apr 26, 2021 (155)

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)
rs57028355	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
12865788083	NC_000021.9:34226826:C:G	NC_000021.9:34226826:C:G	(self)
293390, ss80714629, ss112446171, ss113847760, ss117513939, ss167954638, ss169391824, ss484263806, ss1397779369, ss1699159067, ss2635109384	NC_000021.7:34520997:C:T	NC_000021.9:34226826:C:T	(self)
79700715, 44105203, 31163191, 5816347, 19647687, 47481328, 16992533, 1127503, 20681911, 41964310, 11212114, 44105203, 9732296, ss228548028, ss237970409, ss481483785, ss491565424, ss534290084, ss566476950, ss779875987, ss780687696, ss781492769, ss783361263, ss835353363, ss995089081, ss1082477507, ss1366184855, ss1429175619, ss1579651408, ss1639503561, ss1682497594, ss1752406503, ss1809672690, ss1917951118, ss1938639989, ss1946563947, ss1959950489, ss2030091385, ss2094810675, ss2095118796, ss2158695760, ss2633844696, ss2971514409, ss2985227010, ss2985844655, ss3018848901, ss3022156488, ss3352705654, ss3628473878, ss3628473879, ss3631798454, ss3634853370, ss3640560669, ss3642202600, ss3644791859, ss3652615850, ss3652615851, ss3653995682, ss3685424943, ss3743707668, ss3744498080, ss3745153230, ss3759074825, ss3772649296, ss3835859876, ss3889947330, ss3940303934, ss3985901576, ss5237612258, ss5439723562, ss5624495560, ss5663962241, ss5839003849, ss5847512983, ss5958854908, ss5979628081	NC_000021.8:35599127:C:T	NC_000021.9:34226826:C:T	(self)
104759808, 562507012, 2203772, 1293189, 375891959, 12865788083, ss2245569179, ss3028884288, ss3707679378, ss3725945456, ss3772071720, ss3822242063, ss5100783013, ss5310131205, ss5502185737, ss5617233873, ss5892254740	NC_000021.9:34226826:C:T	NC_000021.9:34226826:C:T	(self)
ss13825477	NT_011512.9:21259523:C:T	NC_000021.9:34226826:C:T	(self)
ss69252865, ss410961439, ss469415494	NT_011512.11:21260998:C:T	NC_000021.9:34226826:C:T	(self)

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

41 citations for rs9982601

PMID	Title	Author	Year	Journal
19198609	Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.	Kathiresan S et al.	2009	Nature genetics
19956433	Genetics of coronary artery disease: focus on genome-wide association studies.	Baudhuin LM et al.	2009	American journal of translational research
20440292	Early identification of cardiovascular risk using genomics and proteomics.	Kullo IJ et al.	2010	Nature reviews. Cardiology
20729558	Improved prediction of cardiovascular disease based on a panel of single nucleotide polymorphisms identified through genome-wide association studies.	Davies RW et al.	2010	Circulation. Cardiovascular genetics
20835900	Genetics of diabetes complications.	Doria A et al.	2010	Current diabetes reports
20971364	A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.	Ripatti S et al.	2010	Lancet (London, England)
21239051	Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.	Reilly MP et al.	2011	Lancet (London, England)
21378990	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.	Schunkert H et al.	2011	Nature genetics
21860704	Implications of discoveries from genome-wide association studies in current cardiovascular practice.	Jeemon P et al.	2011	World journal of cardiology
21875899	Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour.	Peden JF et al.	2011	Human molecular genetics
22144573	Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.	O'Donnell CJ et al.	2011	Circulation
22151179	Genotype-informed estimation of risk of coronary heart disease based on genome-wide association data linked to the electronic medical record.	Ding K et al.	2011	BMC cardiovascular disorders
22152955	Genetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studies.	Qi L et al.	2011	Journal of the American College of Cardiology
22363065	Are myocardial infarction--associated single-nucleotide polymorphisms associated with ischemic stroke?	Cheng YC et al.	2012	Stroke
22429504	Genetic predisposition to coronary heart disease and stroke using an additive genetic risk score: a population-based study in Greece.	Yiannakouris N et al.	2012	Atherosclerosis
22588700	Genetics of coronary artery disease in the 21st century.	Roberts R et al.	2012	Clinical cardiology
22848412	Genetic markers enhance coronary risk prediction in men: the MORGAM prospective cohorts.	Hughes MF et al.	2012	PloS one
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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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs9982601