Name: rs7683177
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.

rs7683177

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:162476215 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.433636 (114779/264690, TOPMED)
T=0.440023 (61510/139788, GnomAD)
T=0.44212 (13634/30838, ALFA) (+ 16 more)
T=0.35116 (9923/28258, 14KJPN)
T=0.35137 (5889/16760, 8.3KJPN)
T=0.4229 (2708/6404, 1000G_30x)
T=0.4273 (2140/5008, 1000G)
T=0.4529 (2028/4478, Estonian)
T=0.4320 (1665/3854, ALSPAC)
T=0.4304 (1596/3708, TWINSUK)
T=0.3276 (960/2930, KOREAN)
T=0.3177 (582/1832, Korea1K)
T=0.478 (477/998, GoNL)
T=0.475 (285/600, NorthernSweden)
T=0.293 (133/454, SGDP_PRJ)
G=0.435 (94/216, Qatari)
T=0.425 (91/214, Vietnamese)
T=0.27 (13/48, Siberian)
T=0.45 (18/40, GENOME_DK)

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	30838	T=0.44212	G=0.55788
European	Sub	24714	T=0.44610	G=0.55390
African	Sub	3164	T=0.4106	G=0.5894
African Others	Sub	124	T=0.395	G=0.605
African American	Sub	3040	T=0.4112	G=0.5888
Asian	Sub	128	T=0.336	G=0.664
East Asian	Sub	100	T=0.31	G=0.69
Other Asian	Sub	28	T=0.43	G=0.57
Latin American 1	Sub	168	T=0.494	G=0.506
Latin American 2	Sub	700	T=0.434	G=0.566
South Asian	Sub	114	T=0.439	G=0.561
Other	Sub	1850	T=0.4486	G=0.5514

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=0.433636	G=0.566364
gnomAD - Genomes	Global	Study-wide	139788	T=0.440023	G=0.559977
gnomAD - Genomes	European	Sub	75756	T=0.45409	G=0.54591
gnomAD - Genomes	African	Sub	41856	T=0.41523	G=0.58477
gnomAD - Genomes	American	Sub	13596	T=0.45594	G=0.54406
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.4416	G=0.5584
gnomAD - Genomes	East Asian	Sub	3120	T=0.3631	G=0.6369
gnomAD - Genomes	Other	Sub	2138	T=0.4355	G=0.5645
Allele Frequency Aggregator	Total	Global	30838	T=0.44212	G=0.55788
Allele Frequency Aggregator	European	Sub	24714	T=0.44610	G=0.55390
Allele Frequency Aggregator	African	Sub	3164	T=0.4106	G=0.5894
Allele Frequency Aggregator	Other	Sub	1850	T=0.4486	G=0.5514
Allele Frequency Aggregator	Latin American 2	Sub	700	T=0.434	G=0.566
Allele Frequency Aggregator	Latin American 1	Sub	168	T=0.494	G=0.506
Allele Frequency Aggregator	Asian	Sub	128	T=0.336	G=0.664
Allele Frequency Aggregator	South Asian	Sub	114	T=0.439	G=0.561
14KJPN	JAPANESE	Study-wide	28258	T=0.35116	G=0.64884
8.3KJPN	JAPANESE	Study-wide	16760	T=0.35137	G=0.64863
1000Genomes_30x	Global	Study-wide	6404	T=0.4229	G=0.5771
1000Genomes_30x	African	Sub	1786	T=0.4205	G=0.5795
1000Genomes_30x	Europe	Sub	1266	T=0.4542	G=0.5458
1000Genomes_30x	South Asian	Sub	1202	T=0.4634	G=0.5366
1000Genomes_30x	East Asian	Sub	1170	T=0.3795	G=0.6205
1000Genomes_30x	American	Sub	980	T=0.389	G=0.611
1000Genomes	Global	Study-wide	5008	T=0.4273	G=0.5727
1000Genomes	African	Sub	1322	T=0.4153	G=0.5847
1000Genomes	East Asian	Sub	1008	T=0.3829	G=0.6171
1000Genomes	Europe	Sub	1006	T=0.4583	G=0.5417
1000Genomes	South Asian	Sub	978	T=0.479	G=0.521
1000Genomes	American	Sub	694	T=0.398	G=0.602
Genetic variation in the Estonian population	Estonian	Study-wide	4478	T=0.4529	G=0.5471
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4320	G=0.5680
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4304	G=0.5696
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.3276	G=0.6724
Korean Genome Project	KOREAN	Study-wide	1832	T=0.3177	G=0.6823
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.478	G=0.522
Northern Sweden	ACPOP	Study-wide	600	T=0.475	G=0.525
SGDP_PRJ	Global	Study-wide	454	T=0.293	G=0.707
Qatari	Global	Study-wide	216	T=0.565	G=0.435
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.425	G=0.575
Siberian	Global	Study-wide	48	T=0.27	G=0.73
The Danish reference pan genome	Danish	Study-wide	40	T=0.45	G=0.55

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 4	NC_000004.12:g.162476215T>G
GRCh37.p13 chr 4	NC_000004.11:g.163397367T>G

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=	G
GRCh38.p14 chr 4	NC_000004.12:g.162476215=	NC_000004.12:g.162476215T>G
GRCh37.p13 chr 4	NC_000004.11:g.163397367=	NC_000004.11:g.163397367T>G

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#.

84 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11664573	Jul 11, 2003 (116)
2	SSAHASNP	ss22177115	Apr 05, 2004 (121)
3	ABI	ss42155528	Mar 13, 2006 (126)
4	BCMHGSC_JDW	ss92861588	Mar 24, 2008 (129)
5	BGI	ss105880800	Feb 04, 2009 (130)
6	1000GENOMES	ss108527016	Jan 23, 2009 (130)
7	1000GENOMES	ss110920455	Jan 25, 2009 (130)
8	ILLUMINA-UK	ss117269908	Feb 14, 2009 (130)
9	ENSEMBL	ss133308368	Dec 01, 2009 (131)
10	ENSEMBL	ss142469565	Dec 01, 2009 (131)
11	GMI	ss154522635	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss162734354	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss164913574	Jul 04, 2010 (132)
14	COMPLETE_GENOMICS	ss167373864	Jul 04, 2010 (132)
15	BUSHMAN	ss199453230	Jul 04, 2010 (132)
16	BCM-HGSC-SUB	ss206559101	Jul 04, 2010 (132)
17	1000GENOMES	ss221335870	Jul 14, 2010 (132)
18	1000GENOMES	ss232690570	Jul 14, 2010 (132)
19	1000GENOMES	ss239918150	Jul 15, 2010 (132)
20	BL	ss253690701	May 09, 2011 (134)
21	GMI	ss278023822	May 04, 2012 (137)
22	GMI	ss285049385	Apr 25, 2013 (138)
23	PJP	ss293241928	May 09, 2011 (134)
24	ILLUMINA	ss479663357	May 04, 2012 (137)
25	ILLUMINA	ss484738769	May 04, 2012 (137)
26	ILLUMINA	ss533175579	Sep 08, 2015 (146)
27	TISHKOFF	ss557997891	Apr 25, 2013 (138)
28	SSMP	ss651821550	Apr 25, 2013 (138)
29	ILLUMINA	ss779628628	Sep 08, 2015 (146)
30	ILLUMINA	ss781037489	Sep 08, 2015 (146)
31	ILLUMINA	ss835101213	Sep 08, 2015 (146)
32	EVA-GONL	ss980921243	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1072140700	Aug 21, 2014 (142)
34	1000GENOMES	ss1312729483	Aug 21, 2014 (142)
35	DDI	ss1430127394	Apr 01, 2015 (144)
36	EVA_GENOME_DK	ss1580872632	Apr 01, 2015 (144)
37	EVA_DECODE	ss1590437548	Apr 01, 2015 (144)
38	EVA_UK10K_ALSPAC	ss1611655485	Apr 01, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1654649518	Apr 01, 2015 (144)
40	HAMMER_LAB	ss1802511733	Sep 08, 2015 (146)
41	WEILL_CORNELL_DGM	ss1924161828	Feb 12, 2016 (147)
42	GENOMED	ss1969928379	Jul 19, 2016 (147)
43	JJLAB	ss2022669515	Sep 14, 2016 (149)
44	USC_VALOUEV	ss2150801547	Dec 20, 2016 (150)
45	HUMAN_LONGEVITY	ss2269030050	Dec 20, 2016 (150)
46	SYSTEMSBIOZJU	ss2625829354	Nov 08, 2017 (151)
47	ILLUMINA	ss2634203386	Nov 08, 2017 (151)
48	GRF	ss2706303209	Nov 08, 2017 (151)
49	GNOMAD	ss2817878490	Nov 08, 2017 (151)
50	SWEGEN	ss2995924880	Nov 08, 2017 (151)
51	BIOINF_KMB_FNS_UNIBA	ss3025113429	Nov 08, 2017 (151)
52	CSHL	ss3346069738	Nov 08, 2017 (151)
53	ILLUMINA	ss3629110336	Oct 12, 2018 (152)
54	ILLUMINA	ss3632134784	Oct 12, 2018 (152)
55	ILLUMINA	ss3642376919	Oct 12, 2018 (152)
56	URBANLAB	ss3647903051	Oct 12, 2018 (152)
57	EGCUT_WGS	ss3663838913	Jul 13, 2019 (153)
58	EVA_DECODE	ss3713506579	Jul 13, 2019 (153)
59	ACPOP	ss3731807905	Jul 13, 2019 (153)
60	EVA	ss3762689557	Jul 13, 2019 (153)
61	PACBIO	ss3784927173	Jul 13, 2019 (153)
62	PACBIO	ss3790354003	Jul 13, 2019 (153)
63	PACBIO	ss3795229619	Jul 13, 2019 (153)
64	KHV_HUMAN_GENOMES	ss3805849446	Jul 13, 2019 (153)
65	EVA	ss3828926172	Apr 26, 2020 (154)
66	EVA	ss3837914523	Apr 26, 2020 (154)
67	EVA	ss3843355449	Apr 26, 2020 (154)
68	SGDP_PRJ	ss3860535497	Apr 26, 2020 (154)
69	KRGDB	ss3906897344	Apr 26, 2020 (154)
70	KOGIC	ss3955547637	Apr 26, 2020 (154)
71	TOPMED	ss4639990355	Apr 26, 2021 (155)
72	TOMMO_GENOMICS	ss5169037610	Apr 26, 2021 (155)
73	1000G_HIGH_COVERAGE	ss5261821733	Oct 13, 2022 (156)
74	EVA	ss5315005733	Oct 13, 2022 (156)
75	EVA	ss5353760034	Oct 13, 2022 (156)
76	HUGCELL_USP	ss5460293105	Oct 13, 2022 (156)
77	1000G_HIGH_COVERAGE	ss5544350918	Oct 13, 2022 (156)
78	SANFORD_IMAGENETICS	ss5636561237	Oct 13, 2022 (156)
79	TOMMO_GENOMICS	ss5704314363	Oct 13, 2022 (156)
80	YY_MCH	ss5805737012	Oct 13, 2022 (156)
81	EVA	ss5845029584	Oct 13, 2022 (156)
82	EVA	ss5854541200	Oct 13, 2022 (156)
83	EVA	ss5866417408	Oct 13, 2022 (156)
84	EVA	ss5964970202	Oct 13, 2022 (156)
85	1000Genomes	NC_000004.11 - 163397367	Oct 12, 2018 (152)
86	1000Genomes_30x	NC_000004.12 - 162476215	Oct 13, 2022 (156)
87	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 163397367	Oct 12, 2018 (152)
88	Genetic variation in the Estonian population	NC_000004.11 - 163397367	Oct 12, 2018 (152)
89	The Danish reference pan genome	NC_000004.11 - 163397367	Apr 26, 2020 (154)
90	gnomAD - Genomes	NC_000004.12 - 162476215	Apr 26, 2021 (155)
91	Genome of the Netherlands Release 5	NC_000004.11 - 163397367	Apr 26, 2020 (154)
92	KOREAN population from KRGDB	NC_000004.11 - 163397367	Apr 26, 2020 (154)
93	Korean Genome Project	NC_000004.12 - 162476215	Apr 26, 2020 (154)
94	Northern Sweden	NC_000004.11 - 163397367	Jul 13, 2019 (153)
95	Qatari	NC_000004.11 - 163397367	Apr 26, 2020 (154)
96	SGDP_PRJ	NC_000004.11 - 163397367	Apr 26, 2020 (154)
97	Siberian	NC_000004.11 - 163397367	Apr 26, 2020 (154)
98	8.3KJPN	NC_000004.11 - 163397367	Apr 26, 2021 (155)
99	14KJPN	NC_000004.12 - 162476215	Oct 13, 2022 (156)
100	TopMed	NC_000004.12 - 162476215	Apr 26, 2021 (155)
101	UK 10K study - Twins	NC_000004.11 - 163397367	Oct 12, 2018 (152)
102	A Vietnamese Genetic Variation Database	NC_000004.11 - 163397367	Jul 13, 2019 (153)
103	ALFA	NC_000004.12 - 162476215	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
ss92861588, ss108527016, ss110920455, ss117269908, ss162734354, ss164913574, ss167373864, ss199453230, ss206559101, ss253690701, ss278023822, ss285049385, ss293241928, ss484738769, ss1590437548	NC_000004.10:163616816:T:G	NC_000004.12:162476214:T:G	(self)
24239413, 13483139, 9577161, 7037571, 5973068, 14074738, 5092770, 6203758, 12552477, 3317901, 27006917, 13483139, 2977076, ss221335870, ss232690570, ss239918150, ss479663357, ss533175579, ss557997891, ss651821550, ss779628628, ss781037489, ss835101213, ss980921243, ss1072140700, ss1312729483, ss1430127394, ss1580872632, ss1611655485, ss1654649518, ss1802511733, ss1924161828, ss1969928379, ss2022669515, ss2150801547, ss2625829354, ss2634203386, ss2706303209, ss2817878490, ss2995924880, ss3346069738, ss3629110336, ss3632134784, ss3642376919, ss3663838913, ss3731807905, ss3762689557, ss3784927173, ss3790354003, ss3795229619, ss3828926172, ss3837914523, ss3860535497, ss3906897344, ss5169037610, ss5315005733, ss5353760034, ss5636561237, ss5845029584, ss5964970202	NC_000004.11:163397366:T:G	NC_000004.12:162476214:T:G	(self)
31876853, 171669713, 11925638, 38151467, 477367911, 5352293481, ss2269030050, ss3025113429, ss3647903051, ss3713506579, ss3805849446, ss3843355449, ss3955547637, ss4639990355, ss5261821733, ss5460293105, ss5544350918, ss5704314363, ss5805737012, ss5854541200, ss5866417408	NC_000004.12:162476214:T:G	NC_000004.12:162476214:T:G	(self)
ss42155528, ss105880800, ss133308368, ss142469565, ss154522635	NT_016354.19:87945087:T:G	NC_000004.12:162476214:T:G	(self)
ss11664573	NT_016606.15:24917031:T:G	NC_000004.12:162476214:T:G	(self)
ss22177115	NT_016606.16:24945422:T:G	NC_000004.12:162476214:T:G	(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 rs7683177

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

rs7683177