Name: rs7356988
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.

rs7356988

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:26396499 (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: G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.453236 (119967/264690, TOPMED)
T=0.425186 (103424/243244, ALFA)
G=0.461454 (64563/139912, GnomAD) (+ 18 more)
G=0.40539 (31887/78658, PAGE_STUDY)
T=0.28268 (7988/28258, 14KJPN)
T=0.28252 (4735/16760, 8.3KJPN)
G=0.4828 (3092/6404, 1000G_30x)
G=0.4922 (2465/5008, 1000G)
T=0.4228 (1894/4480, Estonian)
T=0.4271 (1646/3854, ALSPAC)
T=0.4382 (1625/3708, TWINSUK)
T=0.3096 (907/2930, KOREAN)
T=0.449 (448/998, GoNL)
T=0.263 (208/790, PRJEB37584)
T=0.355 (213/600, NorthernSweden)
G=0.304 (110/362, SGDP_PRJ)
G=0.453 (145/320, HapMap)
T=0.412 (89/216, Qatari)
T=0.269 (58/216, Vietnamese)
G=0.47 (19/40, GENOME_DK)
G=0.42 (16/38, 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	243244	G=0.574814	T=0.425186
European	Sub	216916	G=0.586199	T=0.413801
African	Sub	6356	G=0.1817	T=0.8183
African Others	Sub	260	G=0.100	T=0.900
African American	Sub	6096	G=0.1852	T=0.8148
Asian	Sub	3798	G=0.7283	T=0.2717
East Asian	Sub	3066	G=0.7048	T=0.2952
Other Asian	Sub	732	G=0.827	T=0.173
Latin American 1	Sub	1020	G=0.4990	T=0.5010
Latin American 2	Sub	6544	G=0.5133	T=0.4867
South Asian	Sub	360	G=0.564	T=0.436
Other	Sub	8250	G=0.5663	T=0.4337

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	G=0.453236	T=0.546764
Allele Frequency Aggregator	Total	Global	243244	G=0.574814	T=0.425186
Allele Frequency Aggregator	European	Sub	216916	G=0.586199	T=0.413801
Allele Frequency Aggregator	Other	Sub	8250	G=0.5663	T=0.4337
Allele Frequency Aggregator	Latin American 2	Sub	6544	G=0.5133	T=0.4867
Allele Frequency Aggregator	African	Sub	6356	G=0.1817	T=0.8183
Allele Frequency Aggregator	Asian	Sub	3798	G=0.7283	T=0.2717
Allele Frequency Aggregator	Latin American 1	Sub	1020	G=0.4990	T=0.5010
Allele Frequency Aggregator	South Asian	Sub	360	G=0.564	T=0.436
gnomAD - Genomes	Global	Study-wide	139912	G=0.461454	T=0.538546
gnomAD - Genomes	European	Sub	75812	G=0.57856	T=0.42144
gnomAD - Genomes	African	Sub	41882	G=0.20054	T=0.79946
gnomAD - Genomes	American	Sub	13632	G=0.51122	T=0.48878
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	G=0.6254	T=0.3746
gnomAD - Genomes	East Asian	Sub	3122	G=0.7101	T=0.2899
gnomAD - Genomes	Other	Sub	2146	G=0.4851	T=0.5149
The PAGE Study	Global	Study-wide	78658	G=0.40539	T=0.59461
The PAGE Study	AfricanAmerican	Sub	32498	G=0.21121	T=0.78879
The PAGE Study	Mexican	Sub	10800	G=0.50278	T=0.49722
The PAGE Study	Asian	Sub	8312	G=0.7131	T=0.2869
The PAGE Study	PuertoRican	Sub	7916	G=0.4356	T=0.5644
The PAGE Study	NativeHawaiian	Sub	4532	G=0.7310	T=0.2690
The PAGE Study	Cuban	Sub	4228	G=0.5130	T=0.4870
The PAGE Study	Dominican	Sub	3828	G=0.3762	T=0.6238
The PAGE Study	CentralAmerican	Sub	2450	G=0.4710	T=0.5290
The PAGE Study	SouthAmerican	Sub	1980	G=0.5101	T=0.4899
The PAGE Study	NativeAmerican	Sub	1260	G=0.4921	T=0.5079
The PAGE Study	SouthAsian	Sub	854	G=0.600	T=0.400
14KJPN	JAPANESE	Study-wide	28258	G=0.71732	T=0.28268
8.3KJPN	JAPANESE	Study-wide	16760	G=0.71748	T=0.28252
1000Genomes_30x	Global	Study-wide	6404	G=0.4828	T=0.5172
1000Genomes_30x	African	Sub	1786	G=0.1579	T=0.8421
1000Genomes_30x	Europe	Sub	1266	G=0.5600	T=0.4400
1000Genomes_30x	South Asian	Sub	1202	G=0.6115	T=0.3885
1000Genomes_30x	East Asian	Sub	1170	G=0.7342	T=0.2658
1000Genomes_30x	American	Sub	980	G=0.517	T=0.483
1000Genomes	Global	Study-wide	5008	G=0.4922	T=0.5078
1000Genomes	African	Sub	1322	G=0.1589	T=0.8411
1000Genomes	East Asian	Sub	1008	G=0.7272	T=0.2728
1000Genomes	Europe	Sub	1006	G=0.5596	T=0.4404
1000Genomes	South Asian	Sub	978	G=0.616	T=0.384
1000Genomes	American	Sub	694	G=0.514	T=0.486
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.5772	T=0.4228
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.5729	T=0.4271
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.5618	T=0.4382
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.6904	T=0.3096
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.551	T=0.449
CNV burdens in cranial meningiomas	Global	Study-wide	790	G=0.737	T=0.263
CNV burdens in cranial meningiomas	CRM	Sub	790	G=0.737	T=0.263
Northern Sweden	ACPOP	Study-wide	600	G=0.645	T=0.355
SGDP_PRJ	Global	Study-wide	362	G=0.304	T=0.696
HapMap	Global	Study-wide	320	G=0.453	T=0.547
HapMap	American	Sub	118	G=0.551	T=0.449
HapMap	African	Sub	114	G=0.184	T=0.816
HapMap	Asian	Sub	88	G=0.67	T=0.33
Qatari	Global	Study-wide	216	G=0.588	T=0.412
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.731	T=0.269
The Danish reference pan genome	Danish	Study-wide	40	G=0.47	T=0.53
Siberian	Global	Study-wide	38	G=0.42	T=0.58

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 6	NC_000006.12:g.26396499G>T
GRCh37.p13 chr 6	NC_000006.11:g.26396727G>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	G=	T
GRCh38.p14 chr 6	NC_000006.12:g.26396499=	NC_000006.12:g.26396499G>T
GRCh37.p13 chr 6	NC_000006.11:g.26396727=	NC_000006.11:g.26396727G>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#.

102 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss11121751	Jul 11, 2003 (116)
2	SC_SNP	ss12813153	Dec 05, 2003 (119)
3	ABI	ss42665696	Mar 14, 2006 (126)
4	HGSV	ss85612777	Dec 15, 2007 (130)
5	HUMANGENOME_JCVI	ss98482496	Feb 05, 2009 (130)
6	BGI	ss104288758	Feb 05, 2009 (130)
7	1000GENOMES	ss109850066	Jan 24, 2009 (130)
8	1000GENOMES	ss114062154	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss116364620	Feb 14, 2009 (130)
10	ILLUMINA	ss160875987	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss162141977	Jul 04, 2010 (132)
12	COMPLETE_GENOMICS	ss163278015	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss166336931	Jul 04, 2010 (132)
14	BUSHMAN	ss201560566	Jul 04, 2010 (132)
15	BCM-HGSC-SUB	ss207385096	Jul 04, 2010 (132)
16	1000GENOMES	ss222273933	Jul 14, 2010 (132)
17	1000GENOMES	ss233371814	Jul 14, 2010 (132)
18	1000GENOMES	ss240445459	Jul 15, 2010 (132)
19	GMI	ss278698452	May 04, 2012 (137)
20	GMI	ss285361959	Apr 25, 2013 (138)
21	PJP	ss293813449	May 09, 2011 (134)
22	ILLUMINA	ss481555214	May 04, 2012 (137)
23	ILLUMINA	ss481584547	May 04, 2012 (137)
24	ILLUMINA	ss482556984	Sep 08, 2015 (146)
25	ILLUMINA	ss485572605	May 04, 2012 (137)
26	ILLUMINA	ss537467728	Sep 08, 2015 (146)
27	TISHKOFF	ss559083529	Apr 25, 2013 (138)
28	SSMP	ss652993924	Apr 25, 2013 (138)
29	ILLUMINA	ss778602070	Sep 08, 2015 (146)
30	ILLUMINA	ss783231863	Sep 08, 2015 (146)
31	ILLUMINA	ss784186002	Sep 08, 2015 (146)
32	ILLUMINA	ss832492290	Sep 08, 2015 (146)
33	ILLUMINA	ss834059367	Sep 08, 2015 (146)
34	EVA-GONL	ss982708811	Aug 21, 2014 (142)
35	JMKIDD_LAB	ss1073471810	Aug 21, 2014 (142)
36	1000GENOMES	ss1319413808	Aug 21, 2014 (142)
37	DDI	ss1430676995	Apr 01, 2015 (144)
38	EVA_GENOME_DK	ss1581581438	Apr 01, 2015 (144)
39	EVA_DECODE	ss1592259875	Apr 01, 2015 (144)
40	EVA_UK10K_ALSPAC	ss1615195085	Apr 01, 2015 (144)
41	EVA_UK10K_TWINSUK	ss1658189118	Apr 01, 2015 (144)
42	ILLUMINA	ss1752621642	Sep 08, 2015 (146)
43	HAMMER_LAB	ss1804333497	Sep 08, 2015 (146)
44	WEILL_CORNELL_DGM	ss1925961224	Feb 12, 2016 (147)
45	ILLUMINA	ss1946170367	Feb 12, 2016 (147)
46	ILLUMINA	ss1958873349	Feb 12, 2016 (147)
47	GENOMED	ss1970341039	Jul 19, 2016 (147)
48	JJLAB	ss2023603624	Sep 14, 2016 (149)
49	USC_VALOUEV	ss2151768430	Nov 08, 2017 (151)
50	HUMAN_LONGEVITY	ss2282693866	Dec 20, 2016 (150)
51	SYSTEMSBIOZJU	ss2626289585	Nov 08, 2017 (151)
52	ILLUMINA	ss2634416774	Nov 08, 2017 (151)
53	GRF	ss2707359821	Nov 08, 2017 (151)
54	ILLUMINA	ss2711064979	Nov 08, 2017 (151)
55	GNOMAD	ss2837026150	Nov 08, 2017 (151)
56	SWEGEN	ss2998705068	Nov 08, 2017 (151)
57	BIOINF_KMB_FNS_UNIBA	ss3025588418	Nov 08, 2017 (151)
58	CSHL	ss3346893503	Nov 08, 2017 (151)
59	ILLUMINA	ss3625896840	Oct 12, 2018 (152)
60	ILLUMINA	ss3629473171	Oct 12, 2018 (152)
61	ILLUMINA	ss3632336261	Oct 12, 2018 (152)
62	ILLUMINA	ss3633410985	Oct 12, 2018 (152)
63	ILLUMINA	ss3634133178	Oct 12, 2018 (152)
64	ILLUMINA	ss3635050229	Oct 12, 2018 (152)
65	ILLUMINA	ss3635814397	Oct 12, 2018 (152)
66	ILLUMINA	ss3636766782	Oct 12, 2018 (152)
67	ILLUMINA	ss3637567130	Oct 12, 2018 (152)
68	ILLUMINA	ss3640757525	Oct 12, 2018 (152)
69	ILLUMINA	ss3644903436	Oct 12, 2018 (152)
70	URBANLAB	ss3648295414	Oct 12, 2018 (152)
71	EGCUT_WGS	ss3666637906	Jul 13, 2019 (153)
72	EVA_DECODE	ss3716815558	Jul 13, 2019 (153)
73	ACPOP	ss3733308486	Jul 13, 2019 (153)
74	ILLUMINA	ss3744268422	Jul 13, 2019 (153)
75	ILLUMINA	ss3745350312	Jul 13, 2019 (153)
76	EVA	ss3764758223	Jul 13, 2019 (153)
77	PAGE_CC	ss3771270682	Jul 13, 2019 (153)
78	ILLUMINA	ss3772844070	Jul 13, 2019 (153)
79	KHV_HUMAN_GENOMES	ss3807918302	Jul 13, 2019 (153)
80	EVA	ss3829796866	Apr 26, 2020 (154)
81	EVA	ss3838375263	Apr 26, 2020 (154)
82	EVA	ss3843816247	Apr 26, 2020 (154)
83	SGDP_PRJ	ss3864152289	Apr 26, 2020 (154)
84	KRGDB	ss3910921491	Apr 26, 2020 (154)
85	EVA	ss3984563580	Apr 26, 2021 (155)
86	EVA	ss4017261705	Apr 26, 2021 (155)
87	TOPMED	ss4697316216	Apr 26, 2021 (155)
88	TOMMO_GENOMICS	ss5176657843	Apr 26, 2021 (155)
89	1000G_HIGH_COVERAGE	ss5267798663	Oct 13, 2022 (156)
90	EVA	ss5315132781	Oct 13, 2022 (156)
91	EVA	ss5364511073	Oct 13, 2022 (156)
92	HUGCELL_USP	ss5465556464	Oct 13, 2022 (156)
93	EVA	ss5508391681	Oct 13, 2022 (156)
94	1000G_HIGH_COVERAGE	ss5553404424	Oct 13, 2022 (156)
95	SANFORD_IMAGENETICS	ss5639996951	Oct 13, 2022 (156)
96	TOMMO_GENOMICS	ss5714464939	Oct 13, 2022 (156)
97	YY_MCH	ss5807253951	Oct 13, 2022 (156)
98	EVA	ss5841954203	Oct 13, 2022 (156)
99	EVA	ss5848085070	Oct 13, 2022 (156)
100	EVA	ss5855254607	Oct 13, 2022 (156)
101	EVA	ss5883105950	Oct 13, 2022 (156)
102	EVA	ss5968504305	Oct 13, 2022 (156)
103	1000Genomes	NC_000006.11 - 26396727	Oct 12, 2018 (152)
104	1000Genomes_30x	NC_000006.12 - 26396499	Oct 13, 2022 (156)
105	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 26396727	Oct 12, 2018 (152)
106	Genetic variation in the Estonian population	NC_000006.11 - 26396727	Oct 12, 2018 (152)
107	The Danish reference pan genome	NC_000006.11 - 26396727	Apr 26, 2020 (154)
108	gnomAD - Genomes	NC_000006.12 - 26396499	Apr 26, 2021 (155)
109	Genome of the Netherlands Release 5	NC_000006.11 - 26396727	Apr 26, 2020 (154)
110	HapMap	NC_000006.12 - 26396499	Apr 26, 2020 (154)
111	KOREAN population from KRGDB	NC_000006.11 - 26396727	Apr 26, 2020 (154)
112	Northern Sweden	NC_000006.11 - 26396727	Jul 13, 2019 (153)
113	The PAGE Study	NC_000006.12 - 26396499	Jul 13, 2019 (153)
114	CNV burdens in cranial meningiomas	NC_000006.11 - 26396727	Apr 26, 2021 (155)
115	Qatari	NC_000006.11 - 26396727	Apr 26, 2020 (154)
116	SGDP_PRJ	NC_000006.11 - 26396727	Apr 26, 2020 (154)
117	Siberian	NC_000006.11 - 26396727	Apr 26, 2020 (154)
118	8.3KJPN	NC_000006.11 - 26396727	Apr 26, 2021 (155)
119	14KJPN	NC_000006.12 - 26396499	Oct 13, 2022 (156)
120	TopMed	NC_000006.12 - 26396499	Apr 26, 2021 (155)
121	UK 10K study - Twins	NC_000006.11 - 26396727	Oct 12, 2018 (152)
122	A Vietnamese Genetic Variation Database	NC_000006.11 - 26396727	Jul 13, 2019 (153)
123	ALFA	NC_000006.12 - 26396499	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)
rs59285301	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss85612777	NC_000006.9:26504705:G:T	NC_000006.12:26396498:G:T	(self)
ss109850066, ss114062154, ss116364620, ss162141977, ss163278015, ss166336931, ss201560566, ss207385096, ss278698452, ss285361959, ss293813449, ss481555214, ss1592259875	NC_000006.10:26504705:G:T	NC_000006.12:26396498:G:T	(self)
31175123, 17375013, 12376154, 7746377, 7710609, 18098885, 6593351, 112958, 8003154, 16169269, 4284784, 34627150, 17375013, 3847318, ss222273933, ss233371814, ss240445459, ss481584547, ss482556984, ss485572605, ss537467728, ss559083529, ss652993924, ss778602070, ss783231863, ss784186002, ss832492290, ss834059367, ss982708811, ss1073471810, ss1319413808, ss1430676995, ss1581581438, ss1615195085, ss1658189118, ss1752621642, ss1804333497, ss1925961224, ss1946170367, ss1958873349, ss1970341039, ss2023603624, ss2151768430, ss2626289585, ss2634416774, ss2707359821, ss2711064979, ss2837026150, ss2998705068, ss3346893503, ss3625896840, ss3629473171, ss3632336261, ss3633410985, ss3634133178, ss3635050229, ss3635814397, ss3636766782, ss3637567130, ss3640757525, ss3644903436, ss3666637906, ss3733308486, ss3744268422, ss3745350312, ss3764758223, ss3772844070, ss3829796866, ss3838375263, ss3864152289, ss3910921491, ss3984563580, ss4017261705, ss5176657843, ss5315132781, ss5364511073, ss5508391681, ss5639996951, ss5841954203, ss5848085070, ss5968504305	NC_000006.11:26396726:G:T	NC_000006.12:26396498:G:T	(self)
40930359, 220248287, 3088284, 492151, 48302043, 534693774, 3306576690, ss2282693866, ss3025588418, ss3648295414, ss3716815558, ss3771270682, ss3807918302, ss3843816247, ss4697316216, ss5267798663, ss5465556464, ss5553404424, ss5714464939, ss5807253951, ss5855254607, ss5883105950	NC_000006.12:26396498:G:T	NC_000006.12:26396498:G:T	(self)
ss11121751	NT_007592.13:17254977:G:T	NC_000006.12:26396498:G:T	(self)
ss12813153, ss42665696, ss98482496, ss104288758, ss160875987	NT_007592.15:26336726:G:T	NC_000006.12:26396498:G:T	(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 rs7356988

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

rs7356988