Name: rs6052070
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.

rs6052070

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:116290 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.221996 (58760/264690, TOPMED)
G=0.140890 (22443/159294, ALFA)
G=0.211502 (29626/140074, GnomAD) (+ 18 more)
G=0.15199 (4295/28258, 14KJPN)
G=0.15143 (2538/16760, 8.3KJPN)
G=0.2542 (1628/6404, 1000G_30x)
G=0.2524 (1264/5008, 1000G)
G=0.0935 (419/4480, Estonian)
G=0.1173 (452/3854, ALSPAC)
G=0.1106 (410/3708, TWINSUK)
G=0.1697 (496/2922, KOREAN)
G=0.3002 (568/1892, HapMap)
G=0.1769 (324/1832, Korea1K)
G=0.099 (99/998, GoNL)
G=0.112 (67/600, NorthernSweden)
G=0.255 (55/216, Qatari)
G=0.164 (35/214, Vietnamese)
A=0.389 (70/180, SGDP_PRJ)
G=0.10 (4/40, GENOME_DK)
A=0.5 (3/6, Siberian)
G=0.5 (3/6, 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	159388	A=0.859099	G=0.140901
European	Sub	135574	A=0.878435	G=0.121565
African	Sub	9316	A=0.5794	G=0.4206
African Others	Sub	326	A=0.479	G=0.521
African American	Sub	8990	A=0.5831	G=0.4169
Asian	Sub	632	A=0.851	G=0.149
East Asian	Sub	500	A=0.860	G=0.140
Other Asian	Sub	132	A=0.818	G=0.182
Latin American 1	Sub	752	A=0.758	G=0.242
Latin American 2	Sub	6332	A=0.8964	G=0.1036
South Asian	Sub	186	A=0.720	G=0.280
Other	Sub	6596	A=0.8370	G=0.1630

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=0.778004	G=0.221996
Allele Frequency Aggregator	Total	Global	159294	A=0.859110	G=0.140890
Allele Frequency Aggregator	European	Sub	135498	A=0.878448	G=0.121552
Allele Frequency Aggregator	African	Sub	9316	A=0.5794	G=0.4206
Allele Frequency Aggregator	Other	Sub	6578	A=0.8372	G=0.1628
Allele Frequency Aggregator	Latin American 2	Sub	6332	A=0.8964	G=0.1036
Allele Frequency Aggregator	Latin American 1	Sub	752	A=0.758	G=0.242
Allele Frequency Aggregator	Asian	Sub	632	A=0.851	G=0.149
Allele Frequency Aggregator	South Asian	Sub	186	A=0.720	G=0.280
gnomAD - Genomes	Global	Study-wide	140074	A=0.788498	G=0.211502
gnomAD - Genomes	European	Sub	75912	A=0.89165	G=0.10835
gnomAD - Genomes	African	Sub	41910	A=0.57864	G=0.42136
gnomAD - Genomes	American	Sub	13650	A=0.84330	G=0.15670
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.7855	G=0.2145
gnomAD - Genomes	East Asian	Sub	3124	A=0.8598	G=0.1402
gnomAD - Genomes	Other	Sub	2154	A=0.7902	G=0.2098
14KJPN	JAPANESE	Study-wide	28258	A=0.84801	G=0.15199
8.3KJPN	JAPANESE	Study-wide	16760	A=0.84857	G=0.15143
1000Genomes_30x	Global	Study-wide	6404	A=0.7458	G=0.2542
1000Genomes_30x	African	Sub	1786	A=0.5034	G=0.4966
1000Genomes_30x	Europe	Sub	1266	A=0.8870	G=0.1130
1000Genomes_30x	South Asian	Sub	1202	A=0.7371	G=0.2629
1000Genomes_30x	East Asian	Sub	1170	A=0.8573	G=0.1427
1000Genomes_30x	American	Sub	980	A=0.883	G=0.117
1000Genomes	Global	Study-wide	5008	A=0.7476	G=0.2524
1000Genomes	African	Sub	1322	A=0.5091	G=0.4909
1000Genomes	East Asian	Sub	1008	A=0.8512	G=0.1488
1000Genomes	Europe	Sub	1006	A=0.8807	G=0.1193
1000Genomes	South Asian	Sub	978	A=0.738	G=0.262
1000Genomes	American	Sub	694	A=0.872	G=0.128
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9065	G=0.0935
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.8827	G=0.1173
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.8894	G=0.1106
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.8303	G=0.1697
HapMap	Global	Study-wide	1892	A=0.6998	G=0.3002
HapMap	American	Sub	770	A=0.819	G=0.181
HapMap	African	Sub	692	A=0.477	G=0.523
HapMap	Asian	Sub	254	A=0.858	G=0.142
HapMap	Europe	Sub	176	A=0.824	G=0.176
Korean Genome Project	KOREAN	Study-wide	1832	A=0.8231	G=0.1769
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.901	G=0.099
Northern Sweden	ACPOP	Study-wide	600	A=0.888	G=0.112
Qatari	Global	Study-wide	216	A=0.745	G=0.255
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.836	G=0.164
SGDP_PRJ	Global	Study-wide	180	A=0.389	G=0.611
The Danish reference pan genome	Danish	Study-wide	40	A=0.90	G=0.10
Siberian	Global	Study-wide	6	A=0.5	G=0.5

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.116290A>G
GRCh37.p13 chr 20	NC_000020.10:g.96931A>G

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
GRCh38.p14 chr 20	NC_000020.11:g.116290=	NC_000020.11:g.116290A>G
GRCh37.p13 chr 20	NC_000020.10:g.96931=	NC_000020.10:g.96931A>G

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#.

104 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss8364726	Apr 21, 2003 (114)
2	BCM_SSAHASNP	ss10971383	Jul 11, 2003 (117)
3	PERLEGEN	ss23772465	Sep 20, 2004 (123)
4	PERLEGEN	ss69232551	May 18, 2007 (127)
5	ILLUMINA	ss75118654	Dec 06, 2007 (129)
6	BCMHGSC_JDW	ss91611662	Mar 24, 2008 (129)
7	BGI	ss103712100	Dec 01, 2009 (131)
8	1000GENOMES	ss115346120	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss117452104	Feb 14, 2009 (130)
10	KRIBB_YJKIM	ss119506311	Dec 01, 2009 (131)
11	ENSEMBL	ss138196777	Dec 01, 2009 (131)
12	GMI	ss156059229	Dec 01, 2009 (131)
13	ILLUMINA	ss160760960	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss168828832	Jul 04, 2010 (132)
15	ILLUMINA	ss173970596	Jul 04, 2010 (132)
16	BUSHMAN	ss203804051	Jul 04, 2010 (132)
17	1000GENOMES	ss228210706	Jul 14, 2010 (132)
18	1000GENOMES	ss237729988	Jul 15, 2010 (132)
19	1000GENOMES	ss243923500	Jul 15, 2010 (132)
20	GMI	ss283268997	May 04, 2012 (137)
21	PJP	ss292559606	May 09, 2011 (134)
22	ILLUMINA	ss481202282	May 04, 2012 (137)
23	ILLUMINA	ss481225394	May 04, 2012 (137)
24	ILLUMINA	ss482212628	Sep 08, 2015 (146)
25	ILLUMINA	ss485396399	May 04, 2012 (137)
26	ILLUMINA	ss537334081	Sep 08, 2015 (146)
27	TISHKOFF	ss566082566	Apr 25, 2013 (138)
28	SSMP	ss661953492	Apr 25, 2013 (138)
29	ILLUMINA	ss778935577	Sep 08, 2015 (146)
30	ILLUMINA	ss783143713	Sep 08, 2015 (146)
31	ILLUMINA	ss784099861	Sep 08, 2015 (146)
32	ILLUMINA	ss832402815	Sep 08, 2015 (146)
33	ILLUMINA	ss834397231	Sep 08, 2015 (146)
34	EVA-GONL	ss994456940	Aug 21, 2014 (142)
35	JMKIDD_LAB	ss1082009662	Aug 21, 2014 (142)
36	1000GENOMES	ss1363766624	Aug 21, 2014 (142)
37	DDI	ss1428970694	Apr 01, 2015 (144)
38	EVA_GENOME_DK	ss1579402651	Apr 01, 2015 (144)
39	EVA_UK10K_ALSPAC	ss1638249561	Apr 01, 2015 (144)
40	EVA_UK10K_TWINSUK	ss1681243594	Apr 01, 2015 (144)
41	EVA_DECODE	ss1698510499	Apr 01, 2015 (144)
42	EVA_SVP	ss1713672364	Apr 01, 2015 (144)
43	ILLUMINA	ss1752399598	Sep 08, 2015 (146)
44	HAMMER_LAB	ss1809383681	Sep 08, 2015 (146)
45	WEILL_CORNELL_DGM	ss1937965506	Feb 12, 2016 (147)
46	JJLAB	ss2029757353	Sep 14, 2016 (149)
47	USC_VALOUEV	ss2158311921	Dec 20, 2016 (150)
48	HUMAN_LONGEVITY	ss2240714844	Dec 20, 2016 (150)
49	SYSTEMSBIOZJU	ss2629376481	Nov 08, 2017 (151)
50	ILLUMINA	ss2633765406	Nov 08, 2017 (151)
51	ILLUMINA	ss2635103396	Nov 08, 2017 (151)
52	GRF	ss2703983207	Nov 08, 2017 (151)
53	GNOMAD	ss2964604519	Nov 08, 2017 (151)
54	AFFY	ss2985206621	Nov 08, 2017 (151)
55	AFFY	ss2985827246	Nov 08, 2017 (151)
56	SWEGEN	ss3017744134	Nov 08, 2017 (151)
57	ILLUMINA	ss3022092088	Nov 08, 2017 (151)
58	BIOINF_KMB_FNS_UNIBA	ss3028710440	Nov 08, 2017 (151)
59	CSHL	ss3352380257	Nov 08, 2017 (151)
60	ILLUMINA	ss3628330959	Oct 12, 2018 (152)
61	ILLUMINA	ss3631723834	Oct 12, 2018 (152)
62	ILLUMINA	ss3633240878	Oct 12, 2018 (152)
63	ILLUMINA	ss3633954502	Oct 12, 2018 (152)
64	ILLUMINA	ss3634821839	Oct 12, 2018 (152)
65	ILLUMINA	ss3635639792	Oct 12, 2018 (152)
66	ILLUMINA	ss3636511736	Oct 12, 2018 (152)
67	ILLUMINA	ss3637391846	Oct 12, 2018 (152)
68	ILLUMINA	ss3638329497	Oct 12, 2018 (152)
69	ILLUMINA	ss3640529137	Oct 12, 2018 (152)
70	ILLUMINA	ss3643293424	Oct 12, 2018 (152)
71	ILLUMINA	ss3652545545	Oct 12, 2018 (152)
72	ILLUMINA	ss3653974806	Oct 12, 2018 (152)
73	EGCUT_WGS	ss3684456792	Jul 13, 2019 (153)
74	EVA_DECODE	ss3706405562	Jul 13, 2019 (153)
75	ILLUMINA	ss3725892213	Jul 13, 2019 (153)
76	ACPOP	ss3743179056	Jul 13, 2019 (153)
77	ILLUMINA	ss3745121735	Jul 13, 2019 (153)
78	EVA	ss3758326306	Jul 13, 2019 (153)
79	ILLUMINA	ss3772618054	Jul 13, 2019 (153)
80	KHV_HUMAN_GENOMES	ss3821499203	Jul 13, 2019 (153)
81	EVA	ss3835545023	Apr 27, 2020 (154)
82	SGDP_PRJ	ss3888570650	Apr 27, 2020 (154)
83	KRGDB	ss3938747479	Apr 27, 2020 (154)
84	KOGIC	ss3981679015	Apr 27, 2020 (154)
85	EVA	ss4017832972	Apr 27, 2021 (155)
86	TOPMED	ss5079741408	Apr 27, 2021 (155)
87	TOMMO_GENOMICS	ss5228506435	Apr 27, 2021 (155)
88	EVA	ss5237600392	Apr 27, 2021 (155)
89	1000G_HIGH_COVERAGE	ss5307821002	Oct 13, 2022 (156)
90	EVA	ss5315987157	Oct 13, 2022 (156)
91	EVA	ss5435784159	Oct 13, 2022 (156)
92	HUGCELL_USP	ss5500246348	Oct 13, 2022 (156)
93	1000G_HIGH_COVERAGE	ss5613777663	Oct 13, 2022 (156)
94	SANFORD_IMAGENETICS	ss5624478035	Oct 13, 2022 (156)
95	SANFORD_IMAGENETICS	ss5662711679	Oct 13, 2022 (156)
96	TOMMO_GENOMICS	ss5787398435	Oct 13, 2022 (156)
97	EVA	ss5800013154	Oct 13, 2022 (156)
98	YY_MCH	ss5817748785	Oct 13, 2022 (156)
99	EVA	ss5845337461	Oct 13, 2022 (156)
100	EVA	ss5847500477	Oct 13, 2022 (156)
101	EVA	ss5853034251	Oct 13, 2022 (156)
102	EVA	ss5922372243	Oct 13, 2022 (156)
103	EVA	ss5957607329	Oct 13, 2022 (156)
104	EVA	ss5979607210	Oct 13, 2022 (156)
105	1000Genomes	NC_000020.10 - 96931	Oct 12, 2018 (152)
106	1000Genomes_30x	NC_000020.11 - 116290	Oct 13, 2022 (156)
107	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 96931	Oct 12, 2018 (152)
108	Genetic variation in the Estonian population	NC_000020.10 - 96931	Oct 12, 2018 (152)
109	The Danish reference pan genome	NC_000020.10 - 96931	Apr 27, 2020 (154)
110	gnomAD - Genomes	NC_000020.11 - 116290	Apr 27, 2021 (155)
111	Genome of the Netherlands Release 5	NC_000020.10 - 96931	Apr 27, 2020 (154)
112	HapMap	NC_000020.11 - 116290	Apr 27, 2020 (154)
113	KOREAN population from KRGDB	NC_000020.10 - 96931	Apr 27, 2020 (154)
114	Korean Genome Project	NC_000020.11 - 116290	Apr 27, 2020 (154)
115	Northern Sweden	NC_000020.10 - 96931	Jul 13, 2019 (153)
116	Qatari	NC_000020.10 - 96931	Apr 27, 2020 (154)
117	SGDP_PRJ	NC_000020.10 - 96931	Apr 27, 2020 (154)
118	Siberian	NC_000020.10 - 96931	Apr 27, 2020 (154)
119	8.3KJPN	NC_000020.10 - 96931	Apr 27, 2021 (155)
120	14KJPN	NC_000020.11 - 116290	Oct 13, 2022 (156)
121	TopMed	NC_000020.11 - 116290	Apr 27, 2021 (155)
122	UK 10K study - Twins	NC_000020.10 - 96931	Oct 12, 2018 (152)
123	A Vietnamese Genetic Variation Database	NC_000020.10 - 96931	Jul 13, 2019 (153)
124	ALFA	NC_000020.11 - 116290	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).

Associated ID	History Updated (Build)
rs7273991	Aug 26, 2003 (117)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss91611662, ss115346120, ss117452104, ss168828832, ss203804051, ss283268997, ss292559606, ss481202282, ss1698510499, ss1713672364, ss2635103396, ss3643293424	NC_000020.9:44930:A:G	NC_000020.11:116289:A:G	(self)
77195998, 42725897, 30195040, 5567590, 19037766, 45924873, 16463921, 20007428, 40587630, 10828275, 86475742, 42725897, 9432449, ss228210706, ss237729988, ss243923500, ss481225394, ss482212628, ss485396399, ss537334081, ss566082566, ss661953492, ss778935577, ss783143713, ss784099861, ss832402815, ss834397231, ss994456940, ss1082009662, ss1363766624, ss1428970694, ss1579402651, ss1638249561, ss1681243594, ss1752399598, ss1809383681, ss1937965506, ss2029757353, ss2158311921, ss2629376481, ss2633765406, ss2703983207, ss2964604519, ss2985206621, ss2985827246, ss3017744134, ss3022092088, ss3352380257, ss3628330959, ss3631723834, ss3633240878, ss3633954502, ss3634821839, ss3635639792, ss3636511736, ss3637391846, ss3638329497, ss3640529137, ss3652545545, ss3653974806, ss3684456792, ss3743179056, ss3745121735, ss3758326306, ss3772618054, ss3835545023, ss3888570650, ss3938747479, ss4017832972, ss5228506435, ss5237600392, ss5315987157, ss5435784159, ss5624478035, ss5662711679, ss5800013154, ss5845337461, ss5847500477, ss5957607329, ss5979607210	NC_000020.10:96930:A:G	NC_000020.11:116289:A:G	(self)
101303598, 544385754, 2047620, 38057016, 121235539, 354850353, 8868540659, ss2240714844, ss3028710440, ss3706405562, ss3725892213, ss3821499203, ss3981679015, ss5079741408, ss5307821002, ss5500246348, ss5613777663, ss5787398435, ss5817748785, ss5853034251, ss5922372243	NC_000020.11:116289:A:G	NC_000020.11:116289:A:G	(self)
ss8364726, ss10971383, ss23772465, ss69232551, ss75118654, ss103712100, ss119506311, ss138196777, ss156059229, ss160760960, ss173970596	NT_011387.8:36930:A:G	NC_000020.11:116289:A:G	(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 rs6052070

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

rs6052070