Name: rs8180554
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.

rs8180554

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:159861827 (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>A
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.384522 (101779/264690, TOPMED)
G=0.378496 (52935/139856, GnomAD)
A=0.20472 (5785/28258, 14KJPN) (+ 16 more)
G=0.36289 (6855/18890, ALFA)
A=0.20489 (3434/16760, 8.3KJPN)
G=0.4379 (2804/6404, 1000G_30x)
G=0.4443 (2225/5008, 1000G)
G=0.3857 (1728/4480, Estonian)
G=0.3166 (1220/3854, ALSPAC)
G=0.3174 (1177/3708, TWINSUK)
A=0.2724 (798/2930, KOREAN)
A=0.2877 (527/1832, Korea1K)
G=0.303 (302/998, GoNL)
G=0.315 (189/600, NorthernSweden)
G=0.310 (126/406, SGDP_PRJ)
G=0.287 (62/216, Qatari)
A=0.416 (89/214, Vietnamese)
G=0.38 (16/42, Siberian)
G=0.28 (11/40, 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	18890	G=0.36289	A=0.63711
European	Sub	14286	G=0.34089	A=0.65911
African	Sub	2946	G=0.4331	A=0.5669
African Others	Sub	114	G=0.465	A=0.535
African American	Sub	2832	G=0.4319	A=0.5681
Asian	Sub	112	G=0.607	A=0.393
East Asian	Sub	86	G=0.63	A=0.37
Other Asian	Sub	26	G=0.54	A=0.46
Latin American 1	Sub	146	G=0.390	A=0.610
Latin American 2	Sub	610	G=0.446	A=0.554
South Asian	Sub	98	G=0.38	A=0.62
Other	Sub	692	G=0.397	A=0.603

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=0.384522	A=0.615478
gnomAD - Genomes	Global	Study-wide	139856	G=0.378496	A=0.621504
gnomAD - Genomes	European	Sub	75770	G=0.33912	A=0.66088
gnomAD - Genomes	African	Sub	41870	G=0.42415	A=0.57585
gnomAD - Genomes	American	Sub	13628	G=0.40813	A=0.59187
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.3374	A=0.6626
gnomAD - Genomes	East Asian	Sub	3120	G=0.6397	A=0.3603
gnomAD - Genomes	Other	Sub	2146	G=0.3737	A=0.6263
14KJPN	JAPANESE	Study-wide	28258	G=0.79528	A=0.20472
Allele Frequency Aggregator	Total	Global	18890	G=0.36289	A=0.63711
Allele Frequency Aggregator	European	Sub	14286	G=0.34089	A=0.65911
Allele Frequency Aggregator	African	Sub	2946	G=0.4331	A=0.5669
Allele Frequency Aggregator	Other	Sub	692	G=0.397	A=0.603
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.446	A=0.554
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.390	A=0.610
Allele Frequency Aggregator	Asian	Sub	112	G=0.607	A=0.393
Allele Frequency Aggregator	South Asian	Sub	98	G=0.38	A=0.62
8.3KJPN	JAPANESE	Study-wide	16760	G=0.79511	A=0.20489
1000Genomes_30x	Global	Study-wide	6404	G=0.4379	A=0.5621
1000Genomes_30x	African	Sub	1786	G=0.4412	A=0.5588
1000Genomes_30x	Europe	Sub	1266	G=0.3318	A=0.6682
1000Genomes_30x	South Asian	Sub	1202	G=0.3386	A=0.6614
1000Genomes_30x	East Asian	Sub	1170	G=0.6632	A=0.3368
1000Genomes_30x	American	Sub	980	G=0.421	A=0.579
1000Genomes	Global	Study-wide	5008	G=0.4443	A=0.5557
1000Genomes	African	Sub	1322	G=0.4387	A=0.5613
1000Genomes	East Asian	Sub	1008	G=0.6736	A=0.3264
1000Genomes	Europe	Sub	1006	G=0.3469	A=0.6531
1000Genomes	South Asian	Sub	978	G=0.328	A=0.672
1000Genomes	American	Sub	694	G=0.427	A=0.573
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.3857	A=0.6143
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.3166	A=0.6834
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.3174	A=0.6826
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7276	A=0.2724
Korean Genome Project	KOREAN	Study-wide	1832	G=0.7123	A=0.2877
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.303	A=0.697
Northern Sweden	ACPOP	Study-wide	600	G=0.315	A=0.685
SGDP_PRJ	Global	Study-wide	406	G=0.310	A=0.690
Qatari	Global	Study-wide	216	G=0.287	A=0.713
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.584	A=0.416
Siberian	Global	Study-wide	42	G=0.38	A=0.62
The Danish reference pan genome	Danish	Study-wide	40	G=0.28	A=0.72

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.159861827G>A
GRCh37.p13 chr 6	NC_000006.11:g.160282859G>A

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=	A
GRCh38.p14 chr 6	NC_000006.12:g.159861827=	NC_000006.12:g.159861827G>A
GRCh37.p13 chr 6	NC_000006.11:g.160282859=	NC_000006.11:g.160282859G>A

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#.

66 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss12570432	Aug 27, 2003 (117)
2	SC_SNP	ss12791838	Dec 05, 2003 (119)
3	HGSV	ss77655935	Dec 07, 2007 (129)
4	BCMHGSC_JDW	ss93593437	Mar 24, 2008 (129)
5	1000GENOMES	ss111214167	Jan 25, 2009 (130)
6	1000GENOMES	ss115399940	Jan 25, 2009 (130)
7	ENSEMBL	ss144404136	Dec 01, 2009 (131)
8	GMI	ss157820358	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss162963081	Jul 04, 2010 (132)
10	COMPLETE_GENOMICS	ss165088584	Jul 04, 2010 (132)
11	1000GENOMES	ss222793160	Jul 14, 2010 (132)
12	1000GENOMES	ss233766753	Jul 15, 2010 (132)
13	1000GENOMES	ss240764371	Jul 15, 2010 (132)
14	BL	ss254785324	May 09, 2011 (134)
15	GMI	ss279103652	May 04, 2012 (137)
16	GMI	ss285539734	Apr 25, 2013 (138)
17	PJP	ss293774655	May 09, 2011 (134)
18	TISHKOFF	ss559666274	Apr 25, 2013 (138)
19	SSMP	ss654009466	Apr 25, 2013 (138)
20	EVA-GONL	ss983726349	Aug 21, 2014 (142)
21	JMKIDD_LAB	ss1074204718	Aug 21, 2014 (142)
22	1000GENOMES	ss1323133336	Aug 21, 2014 (142)
23	DDI	ss1430958728	Apr 01, 2015 (144)
24	EVA_GENOME_DK	ss1581983158	Apr 01, 2015 (144)
25	EVA_DECODE	ss1593302880	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1617161968	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1660156001	Apr 01, 2015 (144)
28	HAMMER_LAB	ss1804769968	Sep 08, 2015 (146)
29	WEILL_CORNELL_DGM	ss1926968676	Feb 12, 2016 (147)
30	GENOMED	ss1970575254	Jul 19, 2016 (147)
31	JJLAB	ss2024150628	Sep 14, 2016 (149)
32	USC_VALOUEV	ss2152343662	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2290179105	Dec 20, 2016 (150)
34	SYSTEMSBIOZJU	ss2626565353	Nov 08, 2017 (151)
35	GRF	ss2707982221	Nov 08, 2017 (151)
36	GNOMAD	ss2847550574	Nov 08, 2017 (151)
37	SWEGEN	ss3000293677	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3025866229	Nov 08, 2017 (151)
39	CSHL	ss3347327607	Nov 08, 2017 (151)
40	EGCUT_WGS	ss3668233763	Jul 13, 2019 (153)
41	EVA_DECODE	ss3718701768	Jul 13, 2019 (153)
42	ACPOP	ss3734173100	Jul 13, 2019 (153)
43	EVA	ss3765935152	Jul 13, 2019 (153)
44	PACBIO	ss3785676699	Jul 13, 2019 (153)
45	PACBIO	ss3790994940	Jul 13, 2019 (153)
46	PACBIO	ss3795874403	Jul 13, 2019 (153)
47	KHV_HUMAN_GENOMES	ss3809097976	Jul 13, 2019 (153)
48	EVA	ss3830303376	Apr 26, 2020 (154)
49	EVA	ss3838635537	Apr 26, 2020 (154)
50	EVA	ss3844085636	Apr 26, 2020 (154)
51	SGDP_PRJ	ss3866164896	Apr 26, 2020 (154)
52	KRGDB	ss3913154759	Apr 26, 2020 (154)
53	KOGIC	ss3960488805	Apr 26, 2020 (154)
54	TOPMED	ss4729180977	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5180892743	Apr 26, 2021 (155)
56	1000G_HIGH_COVERAGE	ss5271107314	Oct 13, 2022 (156)
57	HUGCELL_USP	ss5468483828	Oct 13, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5558422441	Oct 13, 2022 (156)
59	SANFORD_IMAGENETICS	ss5641926020	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5720053499	Oct 13, 2022 (156)
61	YY_MCH	ss5808145041	Oct 13, 2022 (156)
62	EVA	ss5843286068	Oct 13, 2022 (156)
63	EVA	ss5855673022	Oct 13, 2022 (156)
64	EVA	ss5886827568	Oct 13, 2022 (156)
65	EVA	ss5970979095	Oct 13, 2022 (156)
66	EVA	ss5970979096	Oct 13, 2022 (156)
67	1000Genomes	NC_000006.11 - 160282859	Oct 12, 2018 (152)
68	1000Genomes_30x	NC_000006.12 - 159861827	Oct 13, 2022 (156)
69	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 160282859	Oct 12, 2018 (152)
70	Genetic variation in the Estonian population	NC_000006.11 - 160282859	Oct 12, 2018 (152)
71	The Danish reference pan genome	NC_000006.11 - 160282859	Apr 26, 2020 (154)
72	gnomAD - Genomes	NC_000006.12 - 159861827	Apr 26, 2021 (155)
73	Genome of the Netherlands Release 5	NC_000006.11 - 160282859	Apr 26, 2020 (154)
74	KOREAN population from KRGDB	NC_000006.11 - 160282859	Apr 26, 2020 (154)
75	Korean Genome Project	NC_000006.12 - 159861827	Apr 26, 2020 (154)
76	Northern Sweden	NC_000006.11 - 160282859	Jul 13, 2019 (153)
77	Qatari	NC_000006.11 - 160282859	Apr 26, 2020 (154)
78	SGDP_PRJ	NC_000006.11 - 160282859	Apr 26, 2020 (154)
79	Siberian	NC_000006.11 - 160282859	Apr 26, 2020 (154)
80	8.3KJPN	NC_000006.11 - 160282859	Apr 26, 2021 (155)
81	14KJPN	NC_000006.12 - 159861827	Oct 13, 2022 (156)
82	TopMed	NC_000006.12 - 159861827	Apr 26, 2021 (155)
83	UK 10K study - Twins	NC_000006.11 - 160282859	Oct 12, 2018 (152)
84	A Vietnamese Genetic Variation Database	NC_000006.11 - 160282859	Jul 13, 2019 (153)
85	ALFA	NC_000006.12 - 159861827	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
ss77655935	NC_000006.9:160253269:G:A	NC_000006.12:159861826:G:A	(self)
ss93593437, ss111214167, ss115399940, ss162963081, ss165088584, ss254785324, ss279103652, ss285539734, ss293774655, ss1593302880	NC_000006.10:160202848:G:A	NC_000006.12:159861826:G:A	(self)
35035181, 19539588, 13972011, 8148097, 8695663, 20332153, 7457965, 9010606, 18181876, 4860016, 38862050, 19539588, 4348598, ss222793160, ss233766753, ss240764371, ss559666274, ss654009466, ss983726349, ss1074204718, ss1323133336, ss1430958728, ss1581983158, ss1617161968, ss1660156001, ss1804769968, ss1926968676, ss1970575254, ss2024150628, ss2152343662, ss2626565353, ss2707982221, ss2847550574, ss3000293677, ss3347327607, ss3668233763, ss3734173100, ss3765935152, ss3785676699, ss3790994940, ss3795874403, ss3830303376, ss3838635537, ss3866164896, ss3913154759, ss5180892743, ss5641926020, ss5843286068, ss5970979095, ss5970979096	NC_000006.11:160282858:G:A	NC_000006.12:159861826:G:A	(self)
45948376, 247316731, 16866806, 53890603, 566558535, 8600281754, ss2290179105, ss3025866229, ss3718701768, ss3809097976, ss3844085636, ss3960488805, ss4729180977, ss5271107314, ss5468483828, ss5558422441, ss5720053499, ss5808145041, ss5855673022, ss5886827568	NC_000006.12:159861826:G:A	NC_000006.12:159861826:G:A	(self)
ss12570432, ss12791838, ss144404136, ss157820358	NT_025741.15:64452315:G:A	NC_000006.12:159861826:G:A	(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 rs8180554

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

rs8180554