Name: rs6050370
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.

rs6050370

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:25150932 (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: A=0.449794 (119056/264690, TOPMED)
A=0.430957 (60246/139796, GnomAD)
A=0.37621 (10631/28258, 14KJPN) (+ 14 more)
A=0.36151 (6829/18890, ALFA)
A=0.37882 (6349/16760, 8.3KJPN)
A=0.4988 (3194/6404, 1000G_30x)
A=0.4866 (2437/5008, 1000G)
A=0.2978 (1334/4480, Estonian)
A=0.2566 (989/3854, ALSPAC)
A=0.2611 (968/3708, TWINSUK)
A=0.3481 (1020/2930, KOREAN)
A=0.262 (261/998, GoNL)
A=0.175 (105/600, NorthernSweden)
G=0.339 (122/360, SGDP_PRJ)
A=0.361 (78/216, Qatari)
A=0.427 (88/206, Vietnamese)
G=0.39 (14/36, 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	G=0.63849	A=0.36151
European	Sub	14286	G=0.72505	A=0.27495
African	Sub	2946	G=0.2614	A=0.7386
African Others	Sub	114	G=0.184	A=0.816
African American	Sub	2832	G=0.2645	A=0.7355
Asian	Sub	112	G=0.598	A=0.402
East Asian	Sub	86	G=0.65	A=0.35
Other Asian	Sub	26	G=0.42	A=0.58
Latin American 1	Sub	146	G=0.616	A=0.384
Latin American 2	Sub	610	G=0.493	A=0.507
South Asian	Sub	98	G=0.72	A=0.28
Other	Sub	692	G=0.584	A=0.416

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=0.550206	A=0.449794
gnomAD - Genomes	Global	Study-wide	139796	G=0.569043	A=0.430957
gnomAD - Genomes	European	Sub	75746	G=0.73143	A=0.26857
gnomAD - Genomes	African	Sub	41842	G=0.26887	A=0.73113
gnomAD - Genomes	American	Sub	13626	G=0.57288	A=0.42712
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.5948	A=0.4052
gnomAD - Genomes	East Asian	Sub	3114	G=0.5902	A=0.4098
gnomAD - Genomes	Other	Sub	2146	G=0.5951	A=0.4049
14KJPN	JAPANESE	Study-wide	28258	G=0.62379	A=0.37621
Allele Frequency Aggregator	Total	Global	18890	G=0.63849	A=0.36151
Allele Frequency Aggregator	European	Sub	14286	G=0.72505	A=0.27495
Allele Frequency Aggregator	African	Sub	2946	G=0.2614	A=0.7386
Allele Frequency Aggregator	Other	Sub	692	G=0.584	A=0.416
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.493	A=0.507
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.616	A=0.384
Allele Frequency Aggregator	Asian	Sub	112	G=0.598	A=0.402
Allele Frequency Aggregator	South Asian	Sub	98	G=0.72	A=0.28
8.3KJPN	JAPANESE	Study-wide	16760	G=0.62118	A=0.37882
1000Genomes_30x	Global	Study-wide	6404	G=0.5012	A=0.4988
1000Genomes_30x	African	Sub	1786	G=0.1725	A=0.8275
1000Genomes_30x	Europe	Sub	1266	G=0.7385	A=0.2615
1000Genomes_30x	South Asian	Sub	1202	G=0.5957	A=0.4043
1000Genomes_30x	East Asian	Sub	1170	G=0.5957	A=0.4043
1000Genomes_30x	American	Sub	980	G=0.565	A=0.435
1000Genomes	Global	Study-wide	5008	G=0.5134	A=0.4866
1000Genomes	African	Sub	1322	G=0.1717	A=0.8283
1000Genomes	East Asian	Sub	1008	G=0.6042	A=0.3958
1000Genomes	Europe	Sub	1006	G=0.7416	A=0.2584
1000Genomes	South Asian	Sub	978	G=0.613	A=0.387
1000Genomes	American	Sub	694	G=0.561	A=0.439
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.7022	A=0.2978
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7434	A=0.2566
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7389	A=0.2611
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.6519	A=0.3481
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.738	A=0.262
Northern Sweden	ACPOP	Study-wide	600	G=0.825	A=0.175
SGDP_PRJ	Global	Study-wide	360	G=0.339	A=0.661
Qatari	Global	Study-wide	216	G=0.639	A=0.361
A Vietnamese Genetic Variation Database	Global	Study-wide	206	G=0.573	A=0.427
Siberian	Global	Study-wide	36	G=0.39	A=0.61

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 20	NC_000020.11:g.25150932G>A
GRCh37.p13 chr 20	NC_000020.10:g.25131568G>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 20	NC_000020.11:g.25150932=	NC_000020.11:g.25150932G>A
GRCh37.p13 chr 20	NC_000020.10:g.25131568=	NC_000020.10:g.25131568G>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#.

58 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss8362464	Apr 21, 2003 (114)
2	CSHL-HAPMAP	ss20122409	Feb 27, 2004 (120)
3	SSAHASNP	ss21764496	Apr 05, 2004 (121)
4	ABI	ss41412513	Mar 15, 2006 (126)
5	HUMANGENOME_JCVI	ss96224084	Feb 06, 2009 (130)
6	ENSEMBL	ss133026523	Dec 01, 2009 (131)
7	COMPLETE_GENOMICS	ss168030102	Jul 04, 2010 (132)
8	COMPLETE_GENOMICS	ss169414455	Jul 04, 2010 (132)
9	BUSHMAN	ss203865296	Jul 04, 2010 (132)
10	GMI	ss283342915	May 04, 2012 (137)
11	PJP	ss292636355	May 09, 2011 (134)
12	1000GENOMES	ss340690568	May 09, 2011 (134)
13	TISHKOFF	ss566209197	Apr 25, 2013 (138)
14	SSMP	ss662082277	Apr 25, 2013 (138)
15	EVA-GONL	ss994656932	Aug 21, 2014 (142)
16	JMKIDD_LAB	ss1082160530	Aug 21, 2014 (142)
17	1000GENOMES	ss1364502066	Aug 21, 2014 (142)
18	DDI	ss1429030076	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1638648357	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1681642390	Apr 01, 2015 (144)
21	EVA_DECODE	ss1698715969	Apr 01, 2015 (144)
22	HAMMER_LAB	ss1809474019	Sep 08, 2015 (146)
23	WEILL_CORNELL_DGM	ss1938164603	Feb 12, 2016 (147)
24	JJLAB	ss2029867607	Sep 14, 2016 (149)
25	USC_VALOUEV	ss2158419748	Dec 20, 2016 (150)
26	HUMAN_LONGEVITY	ss2242214574	Dec 20, 2016 (150)
27	SYSTEMSBIOZJU	ss2629428467	Nov 08, 2017 (151)
28	GRF	ss2704096951	Nov 08, 2017 (151)
29	GNOMAD	ss2966645699	Nov 08, 2017 (151)
30	SWEGEN	ss3018039668	Nov 08, 2017 (151)
31	BIOINF_KMB_FNS_UNIBA	ss3028766365	Nov 08, 2017 (151)
32	CSHL	ss3352470779	Nov 08, 2017 (151)
33	URBANLAB	ss3650995133	Oct 12, 2018 (152)
34	EGCUT_WGS	ss3684766183	Jul 13, 2019 (153)
35	EVA_DECODE	ss3706773776	Jul 13, 2019 (153)
36	ACPOP	ss3743342979	Jul 13, 2019 (153)
37	EVA	ss3758562292	Jul 13, 2019 (153)
38	PACBIO	ss3788628594	Jul 13, 2019 (153)
39	PACBIO	ss3793524635	Jul 13, 2019 (153)
40	PACBIO	ss3798411819	Jul 13, 2019 (153)
41	KHV_HUMAN_GENOMES	ss3821728449	Jul 13, 2019 (153)
42	EVA	ss3835643811	Apr 27, 2020 (154)
43	SGDP_PRJ	ss3888959469	Apr 27, 2020 (154)
44	KRGDB	ss3939167319	Apr 27, 2020 (154)
45	TOPMED	ss5086060111	Apr 27, 2021 (155)
46	TOMMO_GENOMICS	ss5229319534	Apr 27, 2021 (155)
47	1000G_HIGH_COVERAGE	ss5308460472	Oct 13, 2022 (156)
48	EVA	ss5436964156	Oct 13, 2022 (156)
49	HUGCELL_USP	ss5500826048	Oct 13, 2022 (156)
50	EVA	ss5512195483	Oct 13, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5614737191	Oct 13, 2022 (156)
52	SANFORD_IMAGENETICS	ss5663082206	Oct 13, 2022 (156)
53	TOMMO_GENOMICS	ss5788442130	Oct 13, 2022 (156)
54	YY_MCH	ss5817910043	Oct 13, 2022 (156)
55	EVA	ss5845594390	Oct 13, 2022 (156)
56	EVA	ss5853115580	Oct 13, 2022 (156)
57	EVA	ss5923115604	Oct 13, 2022 (156)
58	EVA	ss5957999607	Oct 13, 2022 (156)
59	1000Genomes	NC_000020.10 - 25131568	Oct 12, 2018 (152)
60	1000Genomes_30x	NC_000020.11 - 25150932	Oct 13, 2022 (156)
61	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 25131568	Oct 12, 2018 (152)
62	Genetic variation in the Estonian population	NC_000020.10 - 25131568	Oct 12, 2018 (152)
63	gnomAD - Genomes	NC_000020.11 - 25150932	Apr 27, 2021 (155)
64	Genome of the Netherlands Release 5	NC_000020.10 - 25131568	Apr 27, 2020 (154)
65	KOREAN population from KRGDB	NC_000020.10 - 25131568	Apr 27, 2020 (154)
66	Northern Sweden	NC_000020.10 - 25131568	Jul 13, 2019 (153)
67	Qatari	NC_000020.10 - 25131568	Apr 27, 2020 (154)
68	SGDP_PRJ	NC_000020.10 - 25131568	Apr 27, 2020 (154)
69	Siberian	NC_000020.10 - 25131568	Apr 27, 2020 (154)
70	8.3KJPN	NC_000020.10 - 25131568	Apr 27, 2021 (155)
71	14KJPN	NC_000020.11 - 25150932	Oct 13, 2022 (156)
72	TopMed	NC_000020.11 - 25150932	Apr 27, 2021 (155)
73	UK 10K study - Twins	NC_000020.10 - 25131568	Oct 12, 2018 (152)
74	A Vietnamese Genetic Variation Database	NC_000020.10 - 25131568	Jul 13, 2019 (153)
75	ALFA	NC_000020.11 - 25150932	Apr 27, 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
ss168030102, ss169414455, ss203865296, ss283342915, ss292636355, ss1698715969	NC_000020.9:25079567:G:A	NC_000020.11:25150931:G:A	(self)
77956027, 43162255, 30504431, 19232762, 46344713, 16627844, 20206525, 40976449, 10936102, 87288841, 43162255, 9530217, ss340690568, ss566209197, ss662082277, ss994656932, ss1082160530, ss1364502066, ss1429030076, ss1638648357, ss1681642390, ss1809474019, ss1938164603, ss2029867607, ss2158419748, ss2629428467, ss2704096951, ss2966645699, ss3018039668, ss3352470779, ss3684766183, ss3743342979, ss3758562292, ss3788628594, ss3793524635, ss3798411819, ss3835643811, ss3888959469, ss3939167319, ss5229319534, ss5436964156, ss5512195483, ss5663082206, ss5845594390, ss5957999607	NC_000020.10:25131567:G:A	NC_000020.11:25150931:G:A	(self)
102263126, 549569621, 122279234, 361169056, 8774257229, ss2242214574, ss3028766365, ss3650995133, ss3706773776, ss3821728449, ss5086060111, ss5308460472, ss5500826048, ss5614737191, ss5788442130, ss5817910043, ss5853115580, ss5923115604	NC_000020.11:25150931:G:A	NC_000020.11:25150931:G:A	(self)
ss8362464, ss20122409, ss21764496, ss41412513, ss96224084, ss133026523	NT_011387.8:25071567:G:A	NC_000020.11:25150931: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 rs6050370

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

rs6050370