Name: rs2968864
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.

rs2968864

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:150925074 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.156678 (41471/264690, TOPMED)
C=0.226536 (45044/198838, ALFA)
C=0.162099 (22714/140124, GnomAD) (+ 21 more)
C=0.09229 (7263/78696, PAGE_STUDY)
C=0.04024 (1137/28258, 14KJPN)
C=0.04034 (676/16758, 8.3KJPN)
C=0.1335 (855/6404, 1000G_30x)
C=0.1370 (686/5008, 1000G)
C=0.1708 (765/4480, Estonian)
C=0.2421 (933/3854, ALSPAC)
C=0.2478 (919/3708, TWINSUK)
C=0.0495 (145/2930, KOREAN)
C=0.1244 (259/2082, HGDP_Stanford)
C=0.0524 (96/1832, Korea1K)
C=0.1137 (203/1786, HapMap)
C=0.243 (243/998, GoNL)
C=0.043 (34/790, PRJEB37584)
C=0.243 (146/600, NorthernSweden)
C=0.176 (38/216, Qatari)
C=0.116 (25/216, Vietnamese)
T=0.460 (57/124, SGDP_PRJ)
C=0.40 (16/40, GENOME_DK)
C=0.44 (14/32, Ancient Sardinia)
T=0.46 (11/24, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 6 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	198932	T=0.773516	C=0.226484
European	Sub	171520	T=0.758017	C=0.241983
African	Sub	3986	T=0.9556	C=0.0444
African Others	Sub	172	T=1.000	C=0.000
African American	Sub	3814	T=0.9536	C=0.0464
Asian	Sub	6326	T=0.9504	C=0.0496
East Asian	Sub	4504	T=0.9496	C=0.0504
Other Asian	Sub	1822	T=0.9523	C=0.0477
Latin American 1	Sub	460	T=0.800	C=0.200
Latin American 2	Sub	1008	T=0.8502	C=0.1498
South Asian	Sub	4980	T=0.8064	C=0.1936
Other	Sub	10652	T=0.82614	C=0.17386

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	T=0.843322	C=0.156678
Allele Frequency Aggregator	Total	Global	198838	T=0.773464	C=0.226536
Allele Frequency Aggregator	European	Sub	171444	T=0.757968	C=0.242032
Allele Frequency Aggregator	Other	Sub	10634	T=0.82594	C=0.17406
Allele Frequency Aggregator	Asian	Sub	6326	T=0.9504	C=0.0496
Allele Frequency Aggregator	South Asian	Sub	4980	T=0.8064	C=0.1936
Allele Frequency Aggregator	African	Sub	3986	T=0.9556	C=0.0444
Allele Frequency Aggregator	Latin American 2	Sub	1008	T=0.8502	C=0.1498
Allele Frequency Aggregator	Latin American 1	Sub	460	T=0.800	C=0.200
gnomAD - Genomes	Global	Study-wide	140124	T=0.837901	C=0.162099
gnomAD - Genomes	European	Sub	75876	T=0.76924	C=0.23076
gnomAD - Genomes	African	Sub	41992	T=0.95621	C=0.04379
gnomAD - Genomes	American	Sub	13646	T=0.83453	C=0.16547
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.8126	C=0.1874
gnomAD - Genomes	East Asian	Sub	3134	T=0.9553	C=0.0447
gnomAD - Genomes	Other	Sub	2152	T=0.8397	C=0.1603
The PAGE Study	Global	Study-wide	78696	T=0.90771	C=0.09229
The PAGE Study	AfricanAmerican	Sub	32514	T=0.95113	C=0.04887
The PAGE Study	Mexican	Sub	10810	T=0.87595	C=0.12405
The PAGE Study	Asian	Sub	8316	T=0.9580	C=0.0420
The PAGE Study	PuertoRican	Sub	7918	T=0.8381	C=0.1619
The PAGE Study	NativeHawaiian	Sub	4534	T=0.9255	C=0.0745
The PAGE Study	Cuban	Sub	4230	T=0.7809	C=0.2191
The PAGE Study	Dominican	Sub	3828	T=0.8673	C=0.1327
The PAGE Study	CentralAmerican	Sub	2448	T=0.8852	C=0.1148
The PAGE Study	SouthAmerican	Sub	1982	T=0.8597	C=0.1403
The PAGE Study	NativeAmerican	Sub	1260	T=0.8381	C=0.1619
The PAGE Study	SouthAsian	Sub	856	T=0.806	C=0.194
14KJPN	JAPANESE	Study-wide	28258	T=0.95976	C=0.04024
8.3KJPN	JAPANESE	Study-wide	16758	T=0.95966	C=0.04034
1000Genomes_30x	Global	Study-wide	6404	T=0.8665	C=0.1335
1000Genomes_30x	African	Sub	1786	T=0.9933	C=0.0067
1000Genomes_30x	Europe	Sub	1266	T=0.7433	C=0.2567
1000Genomes_30x	South Asian	Sub	1202	T=0.7504	C=0.2496
1000Genomes_30x	East Asian	Sub	1170	T=0.9496	C=0.0504
1000Genomes_30x	American	Sub	980	T=0.838	C=0.162
1000Genomes	Global	Study-wide	5008	T=0.8630	C=0.1370
1000Genomes	African	Sub	1322	T=0.9939	C=0.0061
1000Genomes	East Asian	Sub	1008	T=0.9464	C=0.0536
1000Genomes	Europe	Sub	1006	T=0.7425	C=0.2575
1000Genomes	South Asian	Sub	978	T=0.749	C=0.251
1000Genomes	American	Sub	694	T=0.827	C=0.173
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8292	C=0.1708
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7579	C=0.2421
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7522	C=0.2478
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.9505	C=0.0495
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	T=0.8756	C=0.1244
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	T=0.936	C=0.064
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.819	C=0.181
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.789	C=0.211
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.769	C=0.231
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	America	Sub	216	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.92	C=0.08
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9476	C=0.0524
HapMap	Global	Study-wide	1786	T=0.8863	C=0.1137
HapMap	American	Sub	770	T=0.827	C=0.173
HapMap	African	Sub	586	T=0.981	C=0.019
HapMap	Asian	Sub	254	T=0.969	C=0.031
HapMap	Europe	Sub	176	T=0.710	C=0.290
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.757	C=0.243
CNV burdens in cranial meningiomas	Global	Study-wide	790	T=0.957	C=0.043
CNV burdens in cranial meningiomas	CRM	Sub	790	T=0.957	C=0.043
Northern Sweden	ACPOP	Study-wide	600	T=0.757	C=0.243
Qatari	Global	Study-wide	216	T=0.824	C=0.176
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.884	C=0.116
SGDP_PRJ	Global	Study-wide	124	T=0.460	C=0.540
The Danish reference pan genome	Danish	Study-wide	40	T=0.60	C=0.40
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	32	T=0.56	C=0.44
Siberian	Global	Study-wide	24	T=0.46	C=0.54

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 7	NC_000007.14:g.150925074T>C
GRCh37.p13 chr 7	NC_000007.13:g.150622162T>C

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	T=	C
GRCh38.p14 chr 7	NC_000007.14:g.150925074=	NC_000007.14:g.150925074T>C
GRCh37.p13 chr 7	NC_000007.13:g.150622162=	NC_000007.13:g.150622162T>C

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#.

104 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss4181606	Nov 05, 2001 (101)
2	CSHL-HAPMAP	ss19713399	Feb 27, 2004 (120)
3	ABI	ss43020917	Mar 14, 2006 (126)
4	ILLUMINA	ss66809151	Dec 01, 2006 (127)
5	ILLUMINA	ss67285905	Dec 01, 2006 (127)
6	ILLUMINA	ss67688736	Dec 01, 2006 (127)
7	PERLEGEN	ss69032139	May 17, 2007 (127)
8	ILLUMINA	ss70764452	May 24, 2008 (130)
9	ILLUMINA	ss71338832	May 17, 2007 (127)
10	ILLUMINA	ss75810117	Dec 07, 2007 (129)
11	ILLUMINA	ss79155534	Dec 14, 2007 (130)
12	KRIBB_YJKIM	ss84133116	Dec 14, 2007 (130)
13	ILLUMINA	ss122153533	Dec 01, 2009 (131)
14	ILLUMINA	ss154249152	Dec 01, 2009 (131)
15	ILLUMINA	ss159426058	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss167259155	Jul 04, 2010 (132)
17	ILLUMINA	ss171502911	Jul 04, 2010 (132)
18	ILLUMINA	ss173543544	Jul 04, 2010 (132)
19	BCM-HGSC-SUB	ss208055719	Jul 04, 2010 (132)
20	1000GENOMES	ss234225232	Jul 15, 2010 (132)
21	BL	ss254764862	May 09, 2011 (134)
22	GMI	ss279588794	May 04, 2012 (137)
23	GMI	ss285745884	Apr 25, 2013 (138)
24	PAGE_STUDY	ss469415488	May 04, 2012 (137)
25	PAGE_STUDY	ss469996415	May 04, 2012 (137)
26	EXOME_CHIP	ss491408251	May 04, 2012 (137)
27	SSMP	ss654813042	Apr 25, 2013 (138)
28	ILLUMINA	ss780684121	Aug 21, 2014 (142)
29	ILLUMINA	ss783357551	Aug 21, 2014 (142)
30	ILLUMINA	ss825486052	Apr 01, 2015 (144)
31	EVA-GONL	ss984958206	Aug 21, 2014 (142)
32	JMKIDD_LAB	ss1075099914	Aug 21, 2014 (142)
33	1000GENOMES	ss1327740231	Aug 21, 2014 (142)
34	DDI	ss1431329535	Apr 01, 2015 (144)
35	EVA_GENOME_DK	ss1582463253	Apr 01, 2015 (144)
36	EVA_DECODE	ss1594548591	Apr 01, 2015 (144)
37	EVA_UK10K_ALSPAC	ss1619532867	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1662526900	Apr 01, 2015 (144)
39	EVA_SVP	ss1712998330	Apr 01, 2015 (144)
40	ILLUMINA	ss1752671873	Sep 08, 2015 (146)
41	ILLUMINA	ss1917824215	Feb 12, 2016 (147)
42	WEILL_CORNELL_DGM	ss1928221070	Feb 12, 2016 (147)
43	ILLUMINA	ss1946224978	Feb 12, 2016 (147)
44	ILLUMINA	ss1959065694	Feb 12, 2016 (147)
45	AMU	ss1966656831	Feb 12, 2016 (147)
46	JJLAB	ss2024799495	Sep 14, 2016 (149)
47	USC_VALOUEV	ss2153023114	Dec 20, 2016 (150)
48	HUMAN_LONGEVITY	ss2299063590	Dec 20, 2016 (150)
49	ILLUMINA	ss2634678706	Nov 08, 2017 (151)
50	GRF	ss2708750727	Nov 08, 2017 (151)
51	GNOMAD	ss2860848636	Nov 08, 2017 (151)
52	AFFY	ss2985425377	Nov 08, 2017 (151)
53	AFFY	ss2986055622	Nov 08, 2017 (151)
54	SWEGEN	ss3002295284	Nov 08, 2017 (151)
55	ILLUMINA	ss3022794889	Nov 08, 2017 (151)
56	BIOINF_KMB_FNS_UNIBA	ss3026188785	Nov 08, 2017 (151)
57	CSHL	ss3347917492	Nov 08, 2017 (151)
58	ILLUMINA	ss3629947350	Oct 12, 2018 (152)
59	ILLUMINA	ss3635148756	Oct 12, 2018 (152)
60	ILLUMINA	ss3639367100	Oct 12, 2018 (152)
61	ILLUMINA	ss3639712672	Oct 12, 2018 (152)
62	ILLUMINA	ss3640856046	Oct 12, 2018 (152)
63	ILLUMINA	ss3643665341	Oct 12, 2018 (152)
64	ILLUMINA	ss3644958134	Oct 12, 2018 (152)
65	ILLUMINA	ss3653331018	Oct 12, 2018 (152)
66	ILLUMINA	ss3654186839	Oct 12, 2018 (152)
67	EGCUT_WGS	ss3670034060	Jul 13, 2019 (153)
68	EVA_DECODE	ss3720992129	Jul 13, 2019 (153)
69	ILLUMINA	ss3726494878	Jul 13, 2019 (153)
70	ACPOP	ss3735202931	Jul 13, 2019 (153)
71	ILLUMINA	ss3744575408	Jul 13, 2019 (153)
72	ILLUMINA	ss3745448695	Jul 13, 2019 (153)
73	EVA	ss3767343948	Jul 13, 2019 (153)
74	PAGE_CC	ss3771408575	Jul 13, 2019 (153)
75	ILLUMINA	ss3772941381	Jul 13, 2019 (153)
76	KHV_HUMAN_GENOMES	ss3810512654	Jul 13, 2019 (153)
77	EVA	ss3830897596	Apr 26, 2020 (154)
78	EVA	ss3838949128	Apr 26, 2020 (154)
79	EVA	ss3844406714	Apr 26, 2020 (154)
80	HGDP	ss3847895711	Apr 26, 2020 (154)
81	SGDP_PRJ	ss3868724578	Apr 26, 2020 (154)
82	KRGDB	ss3916116656	Apr 26, 2020 (154)
83	KOGIC	ss3962873251	Apr 26, 2020 (154)
84	EVA	ss3984597494	Apr 26, 2021 (155)
85	EVA	ss3985330437	Apr 26, 2021 (155)
86	TOPMED	ss4768969698	Apr 26, 2021 (155)
87	TOMMO_GENOMICS	ss5186283521	Apr 26, 2021 (155)
88	1000G_HIGH_COVERAGE	ss5275287780	Oct 13, 2022 (156)
89	EVA	ss5315289665	Oct 13, 2022 (156)
90	EVA	ss5377760549	Oct 13, 2022 (156)
91	HUGCELL_USP	ss5472098554	Oct 13, 2022 (156)
92	EVA	ss5509184664	Oct 13, 2022 (156)
93	1000G_HIGH_COVERAGE	ss5564715813	Oct 13, 2022 (156)
94	SANFORD_IMAGENETICS	ss5624679168	Oct 13, 2022 (156)
95	SANFORD_IMAGENETICS	ss5644299469	Oct 13, 2022 (156)
96	TOMMO_GENOMICS	ss5727500243	Oct 13, 2022 (156)
97	YY_MCH	ss5809231850	Oct 13, 2022 (156)
98	EVA	ss5823734646	Oct 13, 2022 (156)
99	EVA	ss5847328795	Oct 13, 2022 (156)
100	EVA	ss5848159520	Oct 13, 2022 (156)
101	EVA	ss5856157451	Oct 13, 2022 (156)
102	EVA	ss5861488637	Oct 13, 2022 (156)
103	EVA	ss5973499928	Oct 13, 2022 (156)
104	EVA	ss5979846263	Oct 13, 2022 (156)
105	1000Genomes	NC_000007.13 - 150622162	Oct 12, 2018 (152)
106	1000Genomes_30x	NC_000007.14 - 150925074	Oct 13, 2022 (156)
107	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 150622162	Oct 12, 2018 (152)
108	Genetic variation in the Estonian population	NC_000007.13 - 150622162	Oct 12, 2018 (152)
109	The Danish reference pan genome	NC_000007.13 - 150622162	Apr 26, 2020 (154)
110	gnomAD - Genomes	NC_000007.14 - 150925074	Apr 26, 2021 (155)
111	Genome of the Netherlands Release 5	NC_000007.13 - 150622162	Apr 26, 2020 (154)
112	HGDP-CEPH-db Supplement 1	NC_000007.12 - 150253095	Apr 26, 2020 (154)
113	HapMap	NC_000007.14 - 150925074	Apr 26, 2020 (154)
114	KOREAN population from KRGDB	NC_000007.13 - 150622162	Apr 26, 2020 (154)
115	Korean Genome Project	NC_000007.14 - 150925074	Apr 26, 2020 (154)
116	Northern Sweden	NC_000007.13 - 150622162	Jul 13, 2019 (153)
117	The PAGE Study	NC_000007.14 - 150925074	Jul 13, 2019 (153)
118	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 150622162	Apr 26, 2021 (155)
119	CNV burdens in cranial meningiomas	NC_000007.13 - 150622162	Apr 26, 2021 (155)
120	Qatari	NC_000007.13 - 150622162	Apr 26, 2020 (154)
121	SGDP_PRJ	NC_000007.13 - 150622162	Apr 26, 2020 (154)
122	Siberian	NC_000007.13 - 150622162	Apr 26, 2020 (154)
123	8.3KJPN	NC_000007.13 - 150622162	Apr 26, 2021 (155)
124	14KJPN	NC_000007.14 - 150925074	Oct 13, 2022 (156)
125	TopMed	NC_000007.14 - 150925074	Apr 26, 2021 (155)
126	UK 10K study - Twins	NC_000007.13 - 150622162	Oct 12, 2018 (152)
127	A Vietnamese Genetic Variation Database	NC_000007.13 - 150622162	Jul 13, 2019 (153)
128	ALFA	NC_000007.14 - 150925074	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)
rs58161693	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639367100, ss3639712672	NC_000007.11:150059809:T:C	NC_000007.14:150925073:T:C	(self)
573603, ss167259155, ss208055719, ss254764862, ss279588794, ss285745884, ss825486052, ss1594548591, ss1712998330, ss3643665341, ss3847895711	NC_000007.12:150253094:T:C	NC_000007.14:150925073:T:C	(self)
39806241, 22150507, 15772308, 8628191, 9883628, 23294050, 8487796, 556364, 146927, 10263000, 20741558, 5539468, 44252828, 22150507, 4930305, ss234225232, ss491408251, ss654813042, ss780684121, ss783357551, ss984958206, ss1075099914, ss1327740231, ss1431329535, ss1582463253, ss1619532867, ss1662526900, ss1752671873, ss1917824215, ss1928221070, ss1946224978, ss1959065694, ss1966656831, ss2024799495, ss2153023114, ss2634678706, ss2708750727, ss2860848636, ss2985425377, ss2986055622, ss3002295284, ss3022794889, ss3347917492, ss3629947350, ss3635148756, ss3640856046, ss3644958134, ss3653331018, ss3654186839, ss3670034060, ss3735202931, ss3744575408, ss3745448695, ss3767343948, ss3772941381, ss3830897596, ss3838949128, ss3868724578, ss3916116656, ss3984597494, ss3985330437, ss5186283521, ss5315289665, ss5377760549, ss5509184664, ss5624679168, ss5644299469, ss5823734646, ss5847328795, ss5848159520, ss5973499928, ss5979846263	NC_000007.13:150622161:T:C	NC_000007.14:150925073:T:C	(self)
52241748, 281077669, 3523318, 19251252, 630044, 61337347, 606347257, 9697936906, ss2299063590, ss3026188785, ss3720992129, ss3726494878, ss3771408575, ss3810512654, ss3844406714, ss3962873251, ss4768969698, ss5275287780, ss5472098554, ss5564715813, ss5727500243, ss5809231850, ss5856157451, ss5861488637	NC_000007.14:150925073:T:C	NC_000007.14:150925073:T:C	(self)
ss19713399	NT_007914.13:11198177:T:C	NC_000007.14:150925073:T:C	(self)
ss4181606, ss43020917, ss66809151, ss67285905, ss67688736, ss69032139, ss70764452, ss71338832, ss75810117, ss79155534, ss84133116, ss122153533, ss154249152, ss159426058, ss171502911, ss173543544, ss469415488, ss469996415	NT_007914.15:11217784:T:C	NC_000007.14:150925073:T:C	(self)

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

6 citations for rs2968864

PMID	Title	Author	Year	Journal
19305408	Common variants at ten loci influence QT interval duration in the QTGEN Study.	Newton-Cheh C et al.	2009	Nature genetics
20407125	Systems pharmacology of arrhythmias.	Berger SI et al.	2010	Science signaling
22912591	Fine-mapping and initial characterization of QT interval loci in African Americans.	Avery CL et al.	2012	PLoS genetics
24846176	Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart.	Koopmann TT et al.	2014	PloS one
25166880	Evidence of heterogeneity by race/ethnicity in genetic determinants of QT interval.	Seyerle AA et al.	2014	Epidemiology (Cambridge, Mass.)
27016575	Racial Differences in Electrocardiographic Characteristics and Prognostic Significance in Whites Versus Asians.	Santhanakrishnan R et al.	2016	Journal of the American Heart Association

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

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2968864