Name: rs8180593
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.

rs8180593

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:80886136 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.152178 (40280/264690, TOPMED)
T=0.168036 (23389/139190, GnomAD)
T=0.29459 (8324/28256, 14KJPN) (+ 17 more)
T=0.18544 (3503/18890, ALFA)
T=0.29338 (4917/16760, 8.3KJPN)
T=0.1652 (1058/6404, 1000G_30x)
T=0.1701 (852/5008, 1000G)
T=0.2473 (1108/4480, Estonian)
T=0.2060 (794/3854, ALSPAC)
T=0.2093 (776/3708, TWINSUK)
T=0.2867 (840/2930, KOREAN)
T=0.2784 (510/1832, Korea1K)
T=0.213 (213/998, GoNL)
T=0.348 (209/600, NorthernSweden)
T=0.163 (53/326, HapMap)
T=0.162 (35/216, Qatari)
T=0.255 (55/216, Vietnamese)
A=0.394 (71/180, SGDP_PRJ)
T=0.28 (11/40, GENOME_DK)
A=0.44 (7/16, 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=0.81456	T=0.18544
European	Sub	14286	A=0.79063	T=0.20937
African	Sub	2946	A=0.8992	T=0.1008
African Others	Sub	114	A=0.895	T=0.105
African American	Sub	2832	A=0.8994	T=0.1006
Asian	Sub	112	A=0.732	T=0.268
East Asian	Sub	86	A=0.67	T=0.33
Other Asian	Sub	26	A=0.92	T=0.08
Latin American 1	Sub	146	A=0.897	T=0.103
Latin American 2	Sub	610	A=0.908	T=0.092
South Asian	Sub	98	A=0.83	T=0.17
Other	Sub	692	A=0.860	T=0.140

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=0.847822	T=0.152178
gnomAD - Genomes	Global	Study-wide	139190	A=0.831964	T=0.168036
gnomAD - Genomes	European	Sub	75366	A=0.79026	T=0.20974
gnomAD - Genomes	African	Sub	41844	A=0.89800	T=0.10200
gnomAD - Genomes	American	Sub	13480	A=0.89125	T=0.10875
gnomAD - Genomes	Ashkenazi Jewish	Sub	3300	A=0.7915	T=0.2085
gnomAD - Genomes	East Asian	Sub	3062	A=0.7260	T=0.2740
gnomAD - Genomes	Other	Sub	2138	A=0.8499	T=0.1501
14KJPN	JAPANESE	Study-wide	28256	A=0.70541	T=0.29459
Allele Frequency Aggregator	Total	Global	18890	A=0.81456	T=0.18544
Allele Frequency Aggregator	European	Sub	14286	A=0.79063	T=0.20937
Allele Frequency Aggregator	African	Sub	2946	A=0.8992	T=0.1008
Allele Frequency Aggregator	Other	Sub	692	A=0.860	T=0.140
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.908	T=0.092
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.897	T=0.103
Allele Frequency Aggregator	Asian	Sub	112	A=0.732	T=0.268
Allele Frequency Aggregator	South Asian	Sub	98	A=0.83	T=0.17
8.3KJPN	JAPANESE	Study-wide	16760	A=0.70662	T=0.29338
1000Genomes_30x	Global	Study-wide	6404	A=0.8348	T=0.1652
1000Genomes_30x	African	Sub	1786	A=0.9138	T=0.0862
1000Genomes_30x	Europe	Sub	1266	A=0.7962	T=0.2038
1000Genomes_30x	South Asian	Sub	1202	A=0.8344	T=0.1656
1000Genomes_30x	East Asian	Sub	1170	A=0.7009	T=0.2991
1000Genomes_30x	American	Sub	980	A=0.901	T=0.099
1000Genomes	Global	Study-wide	5008	A=0.8299	T=0.1701
1000Genomes	African	Sub	1322	A=0.9153	T=0.0847
1000Genomes	East Asian	Sub	1008	A=0.7093	T=0.2907
1000Genomes	Europe	Sub	1006	A=0.7913	T=0.2087
1000Genomes	South Asian	Sub	978	A=0.827	T=0.173
1000Genomes	American	Sub	694	A=0.902	T=0.098
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7527	T=0.2473
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7940	T=0.2060
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7907	T=0.2093
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.7133	T=0.2867
Korean Genome Project	KOREAN	Study-wide	1832	A=0.7216	T=0.2784
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.787	T=0.213
Northern Sweden	ACPOP	Study-wide	600	A=0.652	T=0.348
HapMap	Global	Study-wide	326	A=0.837	T=0.163
HapMap	American	Sub	120	A=0.800	T=0.200
HapMap	African	Sub	118	A=0.966	T=0.034
HapMap	Asian	Sub	88	A=0.72	T=0.28
Qatari	Global	Study-wide	216	A=0.838	T=0.162
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.745	T=0.255
SGDP_PRJ	Global	Study-wide	180	A=0.394	T=0.606
The Danish reference pan genome	Danish	Study-wide	40	A=0.72	T=0.28
Siberian	Global	Study-wide	16	A=0.44	T=0.56

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.80886136A>T
GRCh37.p13 chr 6	NC_000006.11:g.81595853A>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=	T
GRCh38.p14 chr 6	NC_000006.12:g.80886136=	NC_000006.12:g.80886136A>T
GRCh37.p13 chr 6	NC_000006.11:g.81595853=	NC_000006.11:g.81595853A>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#.

50 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss12570483	Aug 27, 2003 (117)
2	SC_SNP	ss12799881	Dec 05, 2003 (119)
3	BGI	ss106015670	Feb 03, 2009 (130)
4	1000GENOMES	ss222500052	Jul 14, 2010 (132)
5	1000GENOMES	ss233556170	Jul 15, 2010 (132)
6	1000GENOMES	ss240595889	Jul 15, 2010 (132)
7	GMI	ss278890782	May 04, 2012 (137)
8	TISHKOFF	ss559325042	Apr 25, 2013 (138)
9	SSMP	ss653289599	Apr 25, 2013 (138)
10	EVA-GONL	ss983151593	Aug 21, 2014 (142)
11	JMKIDD_LAB	ss1073774474	Aug 21, 2014 (142)
12	1000GENOMES	ss1320953947	Aug 21, 2014 (142)
13	EVA_GENOME_DK	ss1581761646	Apr 01, 2015 (144)
14	EVA_DECODE	ss1592698935	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1615993135	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1658987168	Apr 01, 2015 (144)
17	HAMMER_LAB	ss1804527161	Sep 08, 2015 (146)
18	WEILL_CORNELL_DGM	ss1926410730	Feb 12, 2016 (147)
19	GENOMED	ss1970448173	Jul 19, 2016 (147)
20	JJLAB	ss2023848113	Sep 14, 2016 (149)
21	USC_VALOUEV	ss2152040371	Dec 20, 2016 (150)
22	HUMAN_LONGEVITY	ss2285574725	Dec 20, 2016 (150)
23	SYSTEMSBIOZJU	ss2626419313	Nov 08, 2017 (151)
24	GRF	ss2707654698	Nov 08, 2017 (151)
25	GNOMAD	ss2841309774	Nov 08, 2017 (151)
26	BIOINF_KMB_FNS_UNIBA	ss3025717625	Nov 08, 2017 (151)
27	CSHL	ss3347076415	Nov 08, 2017 (151)
28	EGCUT_WGS	ss3667293897	Jul 13, 2019 (153)
29	EVA_DECODE	ss3717622265	Jul 13, 2019 (153)
30	ACPOP	ss3733693000	Jul 13, 2019 (153)
31	EVA	ss3765268610	Jul 13, 2019 (153)
32	KHV_HUMAN_GENOMES	ss3808419900	Jul 13, 2019 (153)
33	EVA	ss3830032981	Apr 26, 2020 (154)
34	SGDP_PRJ	ss3865016787	Apr 26, 2020 (154)
35	KRGDB	ss3911897143	Apr 26, 2020 (154)
36	KOGIC	ss3959441670	Apr 26, 2020 (154)
37	TOPMED	ss4710142017	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5178433178	Apr 26, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5269182020	Oct 13, 2022 (156)
40	EVA	ss5366910140	Oct 13, 2022 (156)
41	HUGCELL_USP	ss5466743731	Oct 13, 2022 (156)
42	EVA	ss5508584933	Oct 13, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5555495672	Oct 13, 2022 (156)
44	SANFORD_IMAGENETICS	ss5640825696	Oct 13, 2022 (156)
45	TOMMO_GENOMICS	ss5716883356	Oct 13, 2022 (156)
46	YY_MCH	ss5807666193	Oct 13, 2022 (156)
47	EVA	ss5842540229	Oct 13, 2022 (156)
48	EVA	ss5855441307	Oct 13, 2022 (156)
49	EVA	ss5884623573	Oct 13, 2022 (156)
50	EVA	ss5969324736	Oct 13, 2022 (156)
51	1000Genomes	NC_000006.11 - 81595853	Oct 12, 2018 (152)
52	1000Genomes_30x	NC_000006.12 - 80886136	Oct 13, 2022 (156)
53	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 81595853	Oct 12, 2018 (152)
54	Genetic variation in the Estonian population	NC_000006.11 - 81595853	Oct 12, 2018 (152)
55	The Danish reference pan genome	NC_000006.11 - 81595853	Apr 26, 2020 (154)
56	gnomAD - Genomes	NC_000006.12 - 80886136	Apr 26, 2021 (155)
57	Genome of the Netherlands Release 5	NC_000006.11 - 81595853	Apr 26, 2020 (154)
58	HapMap	NC_000006.12 - 80886136	Apr 26, 2020 (154)
59	KOREAN population from KRGDB	NC_000006.11 - 81595853	Apr 26, 2020 (154)
60	Korean Genome Project	NC_000006.12 - 80886136	Apr 26, 2020 (154)
61	Northern Sweden	NC_000006.11 - 81595853	Jul 13, 2019 (153)
62	Qatari	NC_000006.11 - 81595853	Apr 26, 2020 (154)
63	SGDP_PRJ	NC_000006.11 - 81595853	Apr 26, 2020 (154)
64	Siberian	NC_000006.11 - 81595853	Apr 26, 2020 (154)
65	8.3KJPN	NC_000006.11 - 81595853	Apr 26, 2021 (155)
66	14KJPN	NC_000006.12 - 80886136	Oct 13, 2022 (156)
67	TopMed	NC_000006.12 - 80886136	Apr 26, 2021 (155)
68	UK 10K study - Twins	NC_000006.11 - 81595853	Oct 12, 2018 (152)
69	A Vietnamese Genetic Variation Database	NC_000006.11 - 81595853	Jul 13, 2019 (153)
70	ALFA	NC_000006.12 - 80886136	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
ss278890782, ss1592698935	NC_000006.10:81652571:A:T	NC_000006.12:80886135:A:T	(self)
32772585, 18254414, 13032145, 7926585, 8134787, 19074537, 6977865, 8452660, 17033767, 4556725, 36402485, 18254414, 4057973, ss222500052, ss233556170, ss240595889, ss559325042, ss653289599, ss983151593, ss1073774474, ss1320953947, ss1581761646, ss1615993135, ss1658987168, ss1804527161, ss1926410730, ss1970448173, ss2023848113, ss2152040371, ss2626419313, ss2707654698, ss2841309774, ss3347076415, ss3667293897, ss3733693000, ss3765268610, ss3830032981, ss3865016787, ss3911897143, ss5178433178, ss5366910140, ss5508584933, ss5640825696, ss5842540229, ss5969324736	NC_000006.11:81595852:A:T	NC_000006.12:80886135:A:T	(self)
43021607, 231272756, 3175944, 15819671, 50720460, 547519575, 11808060025, ss2285574725, ss3025717625, ss3717622265, ss3808419900, ss3959441670, ss4710142017, ss5269182020, ss5466743731, ss5555495672, ss5716883356, ss5807666193, ss5855441307, ss5884623573	NC_000006.12:80886135:A:T	NC_000006.12:80886135:A:T	(self)
ss12570483, ss12799881, ss106015670	NT_007299.13:19715686:A:T	NC_000006.12:80886135: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 rs8180593

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

rs8180593