Name: rs8188004
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.

rs8188004

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:46193856 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.453746 (120102/264690, TOPMED)
G=0.443330 (62091/140056, GnomAD)
G=0.40516 (11449/28258, 14KJPN) (+ 15 more)
G=0.38735 (7317/18890, ALFA)
G=0.40555 (6797/16760, 8.3KJPN)
G=0.4649 (2977/6404, 1000G_30x)
G=0.4629 (2318/5008, 1000G)
G=0.2779 (1245/4480, Estonian)
G=0.3669 (1414/3854, ALSPAC)
G=0.3657 (1356/3708, TWINSUK)
G=0.4386 (1285/2930, KOREAN)
G=0.349 (348/998, GoNL)
G=0.325 (195/600, NorthernSweden)
A=0.343 (124/362, SGDP_PRJ)
G=0.361 (78/216, Qatari)
G=0.467 (99/212, Vietnamese)
A=0.50 (13/26, Siberian)
G=0.50 (13/26, 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	A=0.61265	G=0.38735
European	Sub	14286	A=0.66709	G=0.33291
African	Sub	2946	A=0.3466	G=0.6534
African Others	Sub	114	A=0.254	G=0.746
African American	Sub	2832	A=0.3503	G=0.6497
Asian	Sub	112	A=0.491	G=0.509
East Asian	Sub	86	A=0.51	G=0.49
Other Asian	Sub	26	A=0.42	G=0.58
Latin American 1	Sub	146	A=0.589	G=0.411
Latin American 2	Sub	610	A=0.669	G=0.331
South Asian	Sub	98	A=0.64	G=0.36
Other	Sub	692	A=0.592	G=0.408

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	A=0.546254	G=0.453746
gnomAD - Genomes	Global	Study-wide	140056	A=0.556670	G=0.443330
gnomAD - Genomes	European	Sub	75866	A=0.65659	G=0.34341
gnomAD - Genomes	African	Sub	41968	A=0.34977	G=0.65023
gnomAD - Genomes	American	Sub	13636	A=0.62746	G=0.37254
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.6425	G=0.3575
gnomAD - Genomes	East Asian	Sub	3122	A=0.4856	G=0.5144
gnomAD - Genomes	Other	Sub	2144	A=0.5914	G=0.4086
14KJPN	JAPANESE	Study-wide	28258	A=0.59484	G=0.40516
Allele Frequency Aggregator	Total	Global	18890	A=0.61265	G=0.38735
Allele Frequency Aggregator	European	Sub	14286	A=0.66709	G=0.33291
Allele Frequency Aggregator	African	Sub	2946	A=0.3466	G=0.6534
Allele Frequency Aggregator	Other	Sub	692	A=0.592	G=0.408
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.669	G=0.331
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.589	G=0.411
Allele Frequency Aggregator	Asian	Sub	112	A=0.491	G=0.509
Allele Frequency Aggregator	South Asian	Sub	98	A=0.64	G=0.36
8.3KJPN	JAPANESE	Study-wide	16760	A=0.59445	G=0.40555
1000Genomes_30x	Global	Study-wide	6404	A=0.5351	G=0.4649
1000Genomes_30x	African	Sub	1786	A=0.3096	G=0.6904
1000Genomes_30x	Europe	Sub	1266	A=0.6675	G=0.3325
1000Genomes_30x	South Asian	Sub	1202	A=0.6506	G=0.3494
1000Genomes_30x	East Asian	Sub	1170	A=0.5154	G=0.4846
1000Genomes_30x	American	Sub	980	A=0.657	G=0.343
1000Genomes	Global	Study-wide	5008	A=0.5371	G=0.4629
1000Genomes	African	Sub	1322	A=0.3101	G=0.6899
1000Genomes	East Asian	Sub	1008	A=0.5218	G=0.4782
1000Genomes	Europe	Sub	1006	A=0.6660	G=0.3340
1000Genomes	South Asian	Sub	978	A=0.641	G=0.359
1000Genomes	American	Sub	694	A=0.659	G=0.341
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7221	G=0.2779
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6331	G=0.3669
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6343	G=0.3657
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.5614	G=0.4386, T=0.0000
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.651	G=0.349
Northern Sweden	ACPOP	Study-wide	600	A=0.675	G=0.325
SGDP_PRJ	Global	Study-wide	362	A=0.343	G=0.657
Qatari	Global	Study-wide	216	A=0.639	G=0.361
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.533	G=0.467
Siberian	Global	Study-wide	26	A=0.50	G=0.50

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 5	NC_000005.10:g.46193856A>G
GRCh38.p14 chr 5	NC_000005.10:g.46193856A>T
GRCh37.p13 chr 5	NC_000005.9:g.46193958A>G
GRCh37.p13 chr 5	NC_000005.9:g.46193958A>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	A=	G	T
GRCh38.p14 chr 5	NC_000005.10:g.46193856=	NC_000005.10:g.46193856A>G	NC_000005.10:g.46193856A>T
GRCh37.p13 chr 5	NC_000005.9:g.46193958=	NC_000005.9:g.46193958A>G	NC_000005.9:g.46193958A>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#.

55 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12580790	Aug 27, 2003 (117)
2	WI_SSAHASNP	ss13488041	Dec 05, 2003 (126)
3	ABI	ss42612144	Mar 11, 2006 (126)
4	HGSV	ss80334900	Dec 15, 2007 (130)
5	BCMHGSC_JDW	ss93083806	Mar 24, 2008 (129)
6	HUMANGENOME_JCVI	ss98675754	Feb 05, 2009 (130)
7	ENSEMBL	ss142767746	Dec 01, 2009 (131)
8	ENSEMBL	ss143104040	Dec 01, 2009 (131)
9	GMI	ss155378371	Dec 01, 2009 (131)
10	BUSHMAN	ss200201006	Jul 04, 2010 (132)
11	BCM-HGSC-SUB	ss207240238	Jul 04, 2010 (132)
12	BL	ss253419371	May 09, 2011 (134)
13	GMI	ss278271954	May 04, 2012 (137)
14	PJP	ss293349155	May 09, 2011 (134)
15	1000GENOMES	ss332444811	May 09, 2011 (134)
16	SSMP	ss652230070	Apr 25, 2013 (138)
17	EVA-GONL	ss981523740	Aug 21, 2014 (142)
18	JMKIDD_LAB	ss1072600430	Aug 21, 2014 (142)
19	1000GENOMES	ss1314943593	Aug 21, 2014 (142)
20	DDI	ss1430329377	Apr 01, 2015 (144)
21	EVA_DECODE	ss1591045113	Apr 01, 2015 (144)
22	EVA_UK10K_ALSPAC	ss1612811527	Apr 01, 2015 (144)
23	EVA_UK10K_TWINSUK	ss1655805560	Apr 01, 2015 (144)
24	HAMMER_LAB	ss1803457474	Sep 08, 2015 (146)
25	WEILL_CORNELL_DGM	ss1924783365	Feb 12, 2016 (147)
26	JJLAB	ss2022994736	Sep 14, 2016 (149)
27	USC_VALOUEV	ss2151147055	Dec 20, 2016 (150)
28	SYSTEMSBIOZJU	ss2625994800	Nov 08, 2017 (151)
29	GRF	ss2706685902	Nov 08, 2017 (151)
30	GNOMAD	ss2824126839	Nov 08, 2017 (151)
31	SWEGEN	ss2996859729	Nov 08, 2017 (151)
32	CSHL	ss3346367370	Nov 08, 2017 (151)
33	URBANLAB	ss3648047407	Oct 12, 2018 (152)
34	EGCUT_WGS	ss3664754398	Jul 13, 2019 (153)
35	EVA_DECODE	ss3714608453	Jul 13, 2019 (153)
36	ACPOP	ss3732321186	Jul 13, 2019 (153)
37	EVA	ss3763384608	Jul 13, 2019 (153)
38	KHV_HUMAN_GENOMES	ss3806557755	Jul 13, 2019 (153)
39	EVA	ss3829224947	Apr 26, 2020 (154)
40	SGDP_PRJ	ss3861769915	Apr 26, 2020 (154)
41	KRGDB	ss3908269606	Apr 26, 2020 (154)
42	TOPMED	ss4658584331	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5171553994	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5263801876	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5462037477	Oct 13, 2022 (156)
46	EVA	ss5508007116	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5547349869	Oct 13, 2022 (156)
48	SANFORD_IMAGENETICS	ss5637723630	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5707552815	Oct 13, 2022 (156)
50	YY_MCH	ss5806249288	Oct 13, 2022 (156)
51	EVA	ss5834876213	Oct 13, 2022 (156)
52	EVA	ss5854797517	Oct 13, 2022 (156)
53	EVA	ss5894030974	Oct 13, 2022 (156)
54	EVA	ss5966148738	Oct 13, 2022 (156)
55	EVA	ss5980292173	Oct 13, 2022 (156)
56	1000Genomes	NC_000005.9 - 46193958	Oct 12, 2018 (152)
57	1000Genomes_30x	NC_000005.10 - 46193856	Oct 13, 2022 (156)
58	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 46193958	Oct 12, 2018 (152)
59	Genetic variation in the Estonian population	NC_000005.9 - 46193958	Oct 12, 2018 (152)
60	gnomAD - Genomes	NC_000005.10 - 46193856	Apr 26, 2021 (155)
61	Genome of the Netherlands Release 5	NC_000005.9 - 46193958	Apr 26, 2020 (154)
62	KOREAN population from KRGDB	NC_000005.9 - 46193958	Apr 26, 2020 (154)
63	Northern Sweden	NC_000005.9 - 46193958	Jul 13, 2019 (153)
64	Qatari	NC_000005.9 - 46193958	Apr 26, 2020 (154)
65	SGDP_PRJ	NC_000005.9 - 46193958	Apr 26, 2020 (154)
66	Siberian	NC_000005.9 - 46193958	Apr 26, 2020 (154)
67	8.3KJPN	NC_000005.9 - 46193958	Apr 26, 2021 (155)
68	14KJPN	NC_000005.10 - 46193856	Oct 13, 2022 (156)
69	TopMed	NC_000005.10 - 46193856	Apr 26, 2021 (155)
70	UK 10K study - Twins	NC_000005.9 - 46193958	Oct 12, 2018 (152)
71	A Vietnamese Genetic Variation Database	NC_000005.9 - 46193958	Jul 13, 2019 (153)
72	ALFA	NC_000005.10 - 46193856	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)
rs9687850	Mar 11, 2006 (126)
rs58764670	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss80334900, ss93083806, ss200201006, ss207240238, ss253419371, ss278271954, ss293349155, ss1591045113	NC_000005.8:46229714:A:G	NC_000005.10:46193855:A:G	(self)
26537856, 14755876, 10492646, 6557814, 15447000, 5606051, 6825295, 13786895, 3663409, 29523301, 14755876, 3278639, ss332444811, ss652230070, ss981523740, ss1072600430, ss1314943593, ss1430329377, ss1612811527, ss1655805560, ss1803457474, ss1924783365, ss2022994736, ss2151147055, ss2625994800, ss2706685902, ss2824126839, ss2996859729, ss3346367370, ss3664754398, ss3732321186, ss3763384608, ss3829224947, ss3861769915, ss3908269606, ss5171553994, ss5508007116, ss5637723630, ss5834876213, ss5966148738, ss5980292173	NC_000005.9:46193957:A:G	NC_000005.10:46193855:A:G	(self)
34875804, 187489360, 41389919, 495961888, 3271996247, ss3648047407, ss3714608453, ss3806557755, ss4658584331, ss5263801876, ss5462037477, ss5547349869, ss5707552815, ss5806249288, ss5854797517, ss5894030974	NC_000005.10:46193855:A:G	NC_000005.10:46193855:A:G	(self)
ss13488041	NT_006576.14:28646063:A:G	NC_000005.10:46193855:A:G	(self)
ss12580790, ss42612144, ss98675754, ss142767746, ss143104040, ss155378371	NT_006576.16:46183957:A:G	NC_000005.10:46193855:A:G	(self)
15447000, ss3908269606	NC_000005.9:46193957:A:T	NC_000005.10:46193855:A: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 rs8188004

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

rs8188004