Name: rs6820914
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.

rs6820914

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:41295630 (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=0.050504 (13368/264690, TOPMED)
A=0.048863 (6850/140188, GnomAD)
A=0.06582 (1860/28258, 14KJPN) (+ 19 more)
A=0.04322 (934/21610, ALFA)
A=0.06706 (1124/16760, 8.3KJPN)
A=0.0559 (358/6404, 1000G_30x)
A=0.0563 (282/5008, 1000G)
A=0.0366 (164/4480, Estonian)
A=0.0223 (86/3854, ALSPAC)
A=0.0216 (80/3708, TWINSUK)
A=0.0791 (231/2922, KOREAN)
A=0.0667 (126/1890, HapMap)
A=0.0628 (115/1832, Korea1K)
A=0.030 (30/998, GoNL)
A=0.016 (10/626, Chileans)
A=0.042 (25/600, NorthernSweden)
A=0.093 (20/216, Qatari)
A=0.074 (16/216, Vietnamese)
G=0.50 (24/48, SGDP_PRJ)
A=0.50 (24/48, SGDP_PRJ)
G=0.5 (3/6, Siberian)
A=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	21610	G=0.95678	A=0.04322
European	Sub	15648	G=0.96817	A=0.03183
African	Sub	3612	G=0.9067	A=0.0933
African Others	Sub	124	G=0.935	A=0.065
African American	Sub	3488	G=0.9057	A=0.0943
Asian	Sub	158	G=0.848	A=0.152
East Asian	Sub	102	G=0.931	A=0.069
Other Asian	Sub	56	G=0.70	A=0.30
Latin American 1	Sub	208	G=0.952	A=0.048
Latin American 2	Sub	752	G=0.984	A=0.016
South Asian	Sub	110	G=0.982	A=0.018
Other	Sub	1122	G=0.9545	A=0.0455

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=0.949496	A=0.050504
gnomAD - Genomes	Global	Study-wide	140188	G=0.951137	A=0.048863
gnomAD - Genomes	European	Sub	75918	G=0.97373	A=0.02627
gnomAD - Genomes	African	Sub	42020	G=0.91057	A=0.08943
gnomAD - Genomes	American	Sub	13648	G=0.97296	A=0.02704
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.9015	A=0.0985
gnomAD - Genomes	East Asian	Sub	3130	G=0.9058	A=0.0942
gnomAD - Genomes	Other	Sub	2152	G=0.9503	A=0.0497
14KJPN	JAPANESE	Study-wide	28258	G=0.93418	A=0.06582
Allele Frequency Aggregator	Total	Global	21610	G=0.95678	A=0.04322
Allele Frequency Aggregator	European	Sub	15648	G=0.96817	A=0.03183
Allele Frequency Aggregator	African	Sub	3612	G=0.9067	A=0.0933
Allele Frequency Aggregator	Other	Sub	1122	G=0.9545	A=0.0455
Allele Frequency Aggregator	Latin American 2	Sub	752	G=0.984	A=0.016
Allele Frequency Aggregator	Latin American 1	Sub	208	G=0.952	A=0.048
Allele Frequency Aggregator	Asian	Sub	158	G=0.848	A=0.152
Allele Frequency Aggregator	South Asian	Sub	110	G=0.982	A=0.018
8.3KJPN	JAPANESE	Study-wide	16760	G=0.93294	A=0.06706
1000Genomes_30x	Global	Study-wide	6404	G=0.9441	A=0.0559
1000Genomes_30x	African	Sub	1786	G=0.9026	A=0.0974
1000Genomes_30x	Europe	Sub	1266	G=0.9724	A=0.0276
1000Genomes_30x	South Asian	Sub	1202	G=0.9784	A=0.0216
1000Genomes_30x	East Asian	Sub	1170	G=0.9162	A=0.0838
1000Genomes_30x	American	Sub	980	G=0.974	A=0.026
1000Genomes	Global	Study-wide	5008	G=0.9437	A=0.0563
1000Genomes	African	Sub	1322	G=0.8994	A=0.1006
1000Genomes	East Asian	Sub	1008	G=0.9137	A=0.0863
1000Genomes	Europe	Sub	1006	G=0.9722	A=0.0278
1000Genomes	South Asian	Sub	978	G=0.979	A=0.021
1000Genomes	American	Sub	694	G=0.981	A=0.019
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9634	A=0.0366
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9777	A=0.0223
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9784	A=0.0216
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9209	A=0.0791
HapMap	Global	Study-wide	1890	G=0.9333	A=0.0667
HapMap	American	Sub	770	G=0.958	A=0.042
HapMap	African	Sub	690	G=0.886	A=0.114
HapMap	Asian	Sub	254	G=0.957	A=0.043
HapMap	Europe	Sub	176	G=0.977	A=0.023
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9372	A=0.0628
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.970	A=0.030
Chileans	Chilean	Study-wide	626	G=0.984	A=0.016
Northern Sweden	ACPOP	Study-wide	600	G=0.958	A=0.042
Qatari	Global	Study-wide	216	G=0.907	A=0.093
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.926	A=0.074
SGDP_PRJ	Global	Study-wide	48	G=0.50	A=0.50
Siberian	Global	Study-wide	6	G=0.5	A=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 4	NC_000004.12:g.41295630G>A
GRCh37.p13 chr 4	NC_000004.11:g.41297647G>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 4	NC_000004.12:g.41295630=	NC_000004.12:g.41295630G>A
GRCh37.p13 chr 4	NC_000004.11:g.41297647=	NC_000004.11:g.41297647G>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#.

49 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10120044	Jul 11, 2003 (116)
2	AFFY	ss76624620	Dec 07, 2007 (129)
3	KRIBB_YJKIM	ss104934784	Feb 05, 2009 (130)
4	COMPLETE_GENOMICS	ss162047855	Jul 04, 2010 (132)
5	1000GENOMES	ss220877215	Jul 14, 2010 (132)
6	1000GENOMES	ss232357436	Jul 14, 2010 (132)
7	1000GENOMES	ss239658391	Jul 15, 2010 (132)
8	GMI	ss277669630	May 04, 2012 (137)
9	TISHKOFF	ss557459652	Apr 25, 2013 (138)
10	SSMP	ss651242327	Apr 25, 2013 (138)
11	EVA-GONL	ss980015650	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1071465389	Aug 21, 2014 (142)
13	1000GENOMES	ss1309353099	Aug 21, 2014 (142)
14	DDI	ss1429850456	Apr 01, 2015 (144)
15	EVA_DECODE	ss1589510959	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1609898351	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1652892384	Apr 01, 2015 (144)
18	EVA_SVP	ss1712667533	Apr 01, 2015 (144)
19	HAMMER_LAB	ss1801324521	Sep 08, 2015 (146)
20	WEILL_CORNELL_DGM	ss1923248317	Feb 12, 2016 (147)
21	JJLAB	ss2022208698	Sep 14, 2016 (149)
22	ILLUMINA	ss2095143690	Dec 20, 2016 (150)
23	USC_VALOUEV	ss2150321070	Dec 20, 2016 (150)
24	HUMAN_LONGEVITY	ss2262296649	Dec 20, 2016 (150)
25	GRF	ss2705775762	Nov 08, 2017 (151)
26	GNOMAD	ss2808191527	Nov 08, 2017 (151)
27	SWEGEN	ss2994513769	Nov 08, 2017 (151)
28	ILLUMINA	ss3652850629	Oct 12, 2018 (152)
29	EGCUT_WGS	ss3662433657	Jul 13, 2019 (153)
30	EVA_DECODE	ss3711868340	Jul 13, 2019 (153)
31	ACPOP	ss3731067873	Jul 13, 2019 (153)
32	EVA	ss3761688647	Jul 13, 2019 (153)
33	KHV_HUMAN_GENOMES	ss3804821251	Jul 13, 2019 (153)
34	SGDP_PRJ	ss3858712102	Apr 26, 2020 (154)
35	KRGDB	ss3904893937	Apr 26, 2020 (154)
36	KOGIC	ss3953954591	Apr 26, 2020 (154)
37	TOPMED	ss4610602368	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5165225766	Apr 27, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5258854598	Oct 18, 2022 (156)
40	EVA	ss5348367420	Oct 18, 2022 (156)
41	HUGCELL_USP	ss5457675188	Oct 18, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5539715906	Oct 18, 2022 (156)
43	SANFORD_IMAGENETICS	ss5634821655	Oct 18, 2022 (156)
44	TOMMO_GENOMICS	ss5699157426	Oct 18, 2022 (156)
45	YY_MCH	ss5804968971	Oct 18, 2022 (156)
46	EVA	ss5843867196	Oct 18, 2022 (156)
47	EVA	ss5854184556	Oct 18, 2022 (156)
48	EVA	ss5863074262	Oct 18, 2022 (156)
49	EVA	ss5963214350	Oct 18, 2022 (156)
50	1000Genomes	NC_000004.11 - 41297647	Oct 12, 2018 (152)
51	1000Genomes_30x	NC_000004.12 - 41295630	Oct 18, 2022 (156)
52	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 41297647	Oct 12, 2018 (152)
53	Chileans	NC_000004.11 - 41297647	Apr 26, 2020 (154)
54	Genetic variation in the Estonian population	NC_000004.11 - 41297647	Oct 12, 2018 (152)
55	gnomAD - Genomes	NC_000004.12 - 41295630	Apr 27, 2021 (155)
56	Genome of the Netherlands Release 5	NC_000004.11 - 41297647	Apr 26, 2020 (154)
57	HapMap	NC_000004.12 - 41295630	Apr 26, 2020 (154)
58	KOREAN population from KRGDB	NC_000004.11 - 41297647	Apr 26, 2020 (154)
59	Korean Genome Project	NC_000004.12 - 41295630	Apr 26, 2020 (154)
60	Northern Sweden	NC_000004.11 - 41297647	Jul 13, 2019 (153)
61	Qatari	NC_000004.11 - 41297647	Apr 26, 2020 (154)
62	SGDP_PRJ	NC_000004.11 - 41297647	Apr 26, 2020 (154)
63	Siberian	NC_000004.11 - 41297647	Apr 26, 2020 (154)
64	8.3KJPN	NC_000004.11 - 41297647	Apr 27, 2021 (155)
65	14KJPN	NC_000004.12 - 41295630	Oct 18, 2022 (156)
66	TopMed	NC_000004.12 - 41295630	Apr 27, 2021 (155)
67	UK 10K study - Twins	NC_000004.11 - 41297647	Oct 12, 2018 (152)
68	A Vietnamese Genetic Variation Database	NC_000004.11 - 41297647	Jul 13, 2019 (153)
69	ALFA	NC_000004.12 - 41295630	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
ss162047855, ss277669630, ss1589510959, ss1712667533	NC_000004.10:40992403:G:A	NC_000004.12:41295629:G:A	(self)
20735497, 11553637, 314370, 8171905, 5090606, 12071331, 4352738, 5290247, 10729082, 2837424, 23195073, 11553637, 2535986, ss220877215, ss232357436, ss239658391, ss557459652, ss651242327, ss980015650, ss1071465389, ss1309353099, ss1429850456, ss1609898351, ss1652892384, ss1801324521, ss1923248317, ss2022208698, ss2095143690, ss2150321070, ss2705775762, ss2808191527, ss2994513769, ss3652850629, ss3662433657, ss3731067873, ss3761688647, ss3858712102, ss3904893937, ss5165225766, ss5348367420, ss5634821655, ss5843867196, ss5963214350	NC_000004.11:41297646:G:A	NC_000004.12:41295629:G:A	(self)
27241841, 146805340, 2599954, 10332592, 32994530, 447979924, 2275432229, ss2262296649, ss3711868340, ss3804821251, ss3953954591, ss4610602368, ss5258854598, ss5457675188, ss5539715906, ss5699157426, ss5804968971, ss5854184556, ss5863074262	NC_000004.12:41295629:G:A	NC_000004.12:41295629:G:A	(self)
ss10120044	NT_006238.10:999612:G:A	NC_000004.12:41295629:G:A	(self)
ss76624620, ss104934784	NT_006238.11:1000550:G:A	NC_000004.12:41295629: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 rs6820914

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

rs6820914