Name: rs7650703
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.

rs7650703

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:161133851 (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: T=0.318153 (84212/264690, TOPMED)
T=0.346046 (48481/140100, GnomAD)
T=0.01500 (424/28258, 14KJPN) (+ 15 more)
T=0.41085 (7761/18890, ALFA)
T=0.01510 (253/16760, 8.3KJPN)
T=0.1943 (1244/6404, 1000G_30x)
T=0.1919 (961/5008, 1000G)
T=0.4864 (2179/4480, Estonian)
T=0.4904 (1890/3854, ALSPAC)
T=0.4946 (1834/3708, TWINSUK)
T=0.0256 (75/2930, KOREAN)
T=0.0213 (39/1832, Korea1K)
T=0.490 (489/998, GoNL)
T=0.427 (256/600, NorthernSweden)
T=0.121 (62/512, SGDP_PRJ)
T=0.426 (92/216, Qatari)
T=0.090 (19/210, Vietnamese)
T=0.17 (9/52, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 0 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	18890	T=0.41085	C=0.58915
European	Sub	14286	T=0.48901	C=0.51099
African	Sub	2946	T=0.1059	C=0.8941
African Others	Sub	114	T=0.053	C=0.947
African American	Sub	2832	T=0.1081	C=0.8919
Asian	Sub	112	T=0.036	C=0.964
East Asian	Sub	86	T=0.01	C=0.99
Other Asian	Sub	26	T=0.12	C=0.88
Latin American 1	Sub	146	T=0.356	C=0.644
Latin American 2	Sub	610	T=0.275	C=0.725
South Asian	Sub	98	T=0.18	C=0.82
Other	Sub	692	T=0.319	C=0.681

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.318153	C=0.681847
gnomAD - Genomes	Global	Study-wide	140100	T=0.346046	C=0.653954
gnomAD - Genomes	European	Sub	75866	T=0.49091	C=0.50909
gnomAD - Genomes	African	Sub	41990	T=0.10872	C=0.89128
gnomAD - Genomes	American	Sub	13638	T=0.32651	C=0.67349
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.4122	C=0.5878
gnomAD - Genomes	East Asian	Sub	3130	T=0.0275	C=0.9725
gnomAD - Genomes	Other	Sub	2152	T=0.3550	C=0.6450
14KJPN	JAPANESE	Study-wide	28258	T=0.01500	C=0.98500
Allele Frequency Aggregator	Total	Global	18890	T=0.41085	C=0.58915
Allele Frequency Aggregator	European	Sub	14286	T=0.48901	C=0.51099
Allele Frequency Aggregator	African	Sub	2946	T=0.1059	C=0.8941
Allele Frequency Aggregator	Other	Sub	692	T=0.319	C=0.681
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.275	C=0.725
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.356	C=0.644
Allele Frequency Aggregator	Asian	Sub	112	T=0.036	C=0.964
Allele Frequency Aggregator	South Asian	Sub	98	T=0.18	C=0.82
8.3KJPN	JAPANESE	Study-wide	16760	T=0.01510	C=0.98490
1000Genomes_30x	Global	Study-wide	6404	T=0.1943	C=0.8057
1000Genomes_30x	African	Sub	1786	T=0.0403	C=0.9597
1000Genomes_30x	Europe	Sub	1266	T=0.4858	C=0.5142
1000Genomes_30x	South Asian	Sub	1202	T=0.2130	C=0.7870
1000Genomes_30x	East Asian	Sub	1170	T=0.0316	C=0.9684
1000Genomes_30x	American	Sub	980	T=0.269	C=0.731
1000Genomes	Global	Study-wide	5008	T=0.1919	C=0.8081
1000Genomes	African	Sub	1322	T=0.0439	C=0.9561
1000Genomes	East Asian	Sub	1008	T=0.0308	C=0.9692
1000Genomes	Europe	Sub	1006	T=0.4851	C=0.5149
1000Genomes	South Asian	Sub	978	T=0.201	C=0.799
1000Genomes	American	Sub	694	T=0.269	C=0.731
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.4864	C=0.5136
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4904	C=0.5096
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4946	C=0.5054
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0256	C=0.9744
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0213	C=0.9787
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.490	C=0.510
Northern Sweden	ACPOP	Study-wide	600	T=0.427	C=0.573
SGDP_PRJ	Global	Study-wide	512	T=0.121	C=0.879
Qatari	Global	Study-wide	216	T=0.426	C=0.574
A Vietnamese Genetic Variation Database	Global	Study-wide	210	T=0.090	C=0.910
Siberian	Global	Study-wide	52	T=0.17	C=0.83

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 3	NC_000003.12:g.161133851T>C
GRCh37.p13 chr 3	NC_000003.11:g.160851639T>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 3	NC_000003.12:g.161133851=	NC_000003.12:g.161133851T>C
GRCh37.p13 chr 3	NC_000003.11:g.160851639=	NC_000003.11:g.160851639T>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#.

71 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11605690	Jul 11, 2003 (116)
2	BCM_SSAHASNP	ss14175211	Dec 05, 2003 (119)
3	CSHL-HAPMAP	ss20152303	Feb 27, 2004 (120)
4	SSAHASNP	ss21917430	Apr 05, 2004 (121)
5	ABI	ss41855250	Mar 13, 2006 (126)
6	HGSV	ss78644554	Dec 07, 2007 (129)
7	BCMHGSC_JDW	ss92348333	Mar 24, 2008 (129)
8	HUMANGENOME_JCVI	ss96068789	Feb 04, 2009 (130)
9	BGI	ss105782580	Feb 04, 2009 (130)
10	ENSEMBL	ss135449786	Dec 01, 2009 (131)
11	ENSEMBL	ss139259154	Dec 01, 2009 (131)
12	GMI	ss156422588	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss164781972	Jul 04, 2010 (132)
14	COMPLETE_GENOMICS	ss167382016	Jul 04, 2010 (132)
15	BUSHMAN	ss203438657	Jul 04, 2010 (132)
16	BCM-HGSC-SUB	ss206203594	Jul 04, 2010 (132)
17	1000GENOMES	ss232112329	Jul 14, 2010 (132)
18	BL	ss253641058	May 09, 2011 (134)
19	GMI	ss277427320	May 04, 2012 (137)
20	GMI	ss284784061	Apr 25, 2013 (138)
21	PJP	ss292959865	May 09, 2011 (134)
22	TISHKOFF	ss557072182	Apr 25, 2013 (138)
23	SSMP	ss650809668	Apr 25, 2013 (138)
24	EVA-GONL	ss979376015	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1070994216	Aug 21, 2014 (142)
26	1000GENOMES	ss1306981334	Aug 21, 2014 (142)
27	DDI	ss1429648511	Apr 01, 2015 (144)
28	EVA_DECODE	ss1588868803	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1608651424	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1651645457	Apr 01, 2015 (144)
31	HAMMER_LAB	ss1800327765	Sep 08, 2015 (146)
32	WEILL_CORNELL_DGM	ss1922599436	Feb 12, 2016 (147)
33	GENOMED	ss1969570654	Jul 19, 2016 (147)
34	JJLAB	ss2021872423	Sep 14, 2016 (149)
35	USC_VALOUEV	ss2149968151	Dec 20, 2016 (150)
36	HUMAN_LONGEVITY	ss2257545636	Dec 20, 2016 (150)
37	SYSTEMSBIOZJU	ss2625437255	Nov 08, 2017 (151)
38	GRF	ss2705386865	Nov 08, 2017 (151)
39	GNOMAD	ss2801491166	Nov 08, 2017 (151)
40	SWEGEN	ss2993524818	Nov 08, 2017 (151)
41	BIOINF_KMB_FNS_UNIBA	ss3024703332	Nov 08, 2017 (151)
42	CSHL	ss3345360155	Nov 08, 2017 (151)
43	URBANLAB	ss3647569628	Oct 12, 2018 (152)
44	EGCUT_WGS	ss3661465823	Jul 13, 2019 (153)
45	EVA_DECODE	ss3710684579	Jul 13, 2019 (153)
46	ACPOP	ss3730528311	Jul 13, 2019 (153)
47	EVA	ss3760945015	Jul 13, 2019 (153)
48	PACBIO	ss3784518466	Jul 13, 2019 (153)
49	PACBIO	ss3790003244	Jul 13, 2019 (153)
50	PACBIO	ss3794877880	Jul 13, 2019 (153)
51	KHV_HUMAN_GENOMES	ss3804079417	Jul 13, 2019 (153)
52	EVA	ss3828177381	Apr 25, 2020 (154)
53	EVA	ss3837521829	Apr 25, 2020 (154)
54	EVA	ss3842953528	Apr 25, 2020 (154)
55	SGDP_PRJ	ss3857402943	Apr 25, 2020 (154)
56	KRGDB	ss3903459373	Apr 25, 2020 (154)
57	KOGIC	ss3952806439	Apr 25, 2020 (154)
58	TOPMED	ss4590830692	Apr 26, 2021 (155)
59	TOMMO_GENOMICS	ss5162511194	Apr 26, 2021 (155)
60	1000G_HIGH_COVERAGE	ss5256745191	Oct 12, 2022 (156)
61	EVA	ss5344583984	Oct 12, 2022 (156)
62	HUGCELL_USP	ss5455812081	Oct 12, 2022 (156)
63	EVA	ss5507278722	Oct 12, 2022 (156)
64	1000G_HIGH_COVERAGE	ss5536557992	Oct 12, 2022 (156)
65	SANFORD_IMAGENETICS	ss5633598650	Oct 12, 2022 (156)
66	TOMMO_GENOMICS	ss5695656632	Oct 12, 2022 (156)
67	YY_MCH	ss5804424991	Oct 12, 2022 (156)
68	EVA	ss5826756426	Oct 12, 2022 (156)
69	EVA	ss5853925081	Oct 12, 2022 (156)
70	EVA	ss5871829385	Oct 12, 2022 (156)
71	EVA	ss5961968459	Oct 12, 2022 (156)
72	1000Genomes	NC_000003.11 - 160851639	Oct 12, 2018 (152)
73	1000Genomes_30x	NC_000003.12 - 161133851	Oct 12, 2022 (156)
74	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 160851639	Oct 12, 2018 (152)
75	Genetic variation in the Estonian population	NC_000003.11 - 160851639	Oct 12, 2018 (152)
76	gnomAD - Genomes	NC_000003.12 - 161133851	Apr 26, 2021 (155)
77	Genome of the Netherlands Release 5	NC_000003.11 - 160851639	Apr 25, 2020 (154)
78	KOREAN population from KRGDB	NC_000003.11 - 160851639	Apr 25, 2020 (154)
79	Korean Genome Project	NC_000003.12 - 161133851	Apr 25, 2020 (154)
80	Northern Sweden	NC_000003.11 - 160851639	Jul 13, 2019 (153)
81	Qatari	NC_000003.11 - 160851639	Apr 25, 2020 (154)
82	SGDP_PRJ	NC_000003.11 - 160851639	Apr 25, 2020 (154)
83	Siberian	NC_000003.11 - 160851639	Apr 25, 2020 (154)
84	8.3KJPN	NC_000003.11 - 160851639	Apr 26, 2021 (155)
85	14KJPN	NC_000003.12 - 161133851	Oct 12, 2022 (156)
86	TopMed	NC_000003.12 - 161133851	Apr 26, 2021 (155)
87	UK 10K study - Twins	NC_000003.11 - 160851639	Oct 12, 2018 (152)
88	A Vietnamese Genetic Variation Database	NC_000003.11 - 160851639	Jul 13, 2019 (153)
89	ALFA	NC_000003.12 - 161133851	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78644554	NC_000003.9:162334340:T:C	NC_000003.12:161133850:T:C	(self)
ss92348333, ss164781972, ss167382016, ss203438657, ss206203594, ss253641058, ss277427320, ss284784061, ss292959865, ss1588868803	NC_000003.10:162334332:T:C	NC_000003.12:161133850:T:C	(self)
18275522, 10183051, 7204071, 4472540, 10636767, 3813176, 4641366, 9419923, 2484505, 20480501, 10183051, 2222625, ss232112329, ss557072182, ss650809668, ss979376015, ss1070994216, ss1306981334, ss1429648511, ss1608651424, ss1651645457, ss1800327765, ss1922599436, ss1969570654, ss2021872423, ss2149968151, ss2625437255, ss2705386865, ss2801491166, ss2993524818, ss3345360155, ss3661465823, ss3730528311, ss3760945015, ss3784518466, ss3790003244, ss3794877880, ss3828177381, ss3837521829, ss3857402943, ss3903459373, ss5162511194, ss5344583984, ss5507278722, ss5633598650, ss5826756426, ss5961968459	NC_000003.11:160851638:T:C	NC_000003.12:161133850:T:C	(self)
24083927, 129820627, 9184440, 29493736, 428208247, 11911862506, ss2257545636, ss3024703332, ss3647569628, ss3710684579, ss3804079417, ss3842953528, ss3952806439, ss4590830692, ss5256745191, ss5455812081, ss5536557992, ss5695656632, ss5804424991, ss5853925081, ss5871829385	NC_000003.12:161133850:T:C	NC_000003.12:161133850:T:C	(self)
ss11605690	NT_005612.13:67251178:T:C	NC_000003.12:161133850:T:C	(self)
ss14175211, ss20152303, ss21917430	NT_005612.14:67346796:T:C	NC_000003.12:161133850:T:C	(self)
ss41855250, ss96068789, ss105782580, ss135449786, ss139259154, ss156422588	NT_005612.16:67346784:T:C	NC_000003.12:161133850:T:C	(self)

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

No publications for rs7650703

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs7650703