Name: rs6822923
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.

rs6822923

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:162477553 (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=0.229076 (60634/264690, TOPMED)
A=0.214231 (29988/139980, GnomAD)
G=0.47445 (13407/28258, 14KJPN) (+ 16 more)
A=0.22626 (4274/18890, ALFA)
G=0.47589 (7976/16760, 8.3KJPN)
A=0.3009 (1927/6404, 1000G_30x)
A=0.3021 (1513/5008, 1000G)
A=0.2364 (1059/4480, Estonian)
A=0.2356 (908/3854, ALSPAC)
A=0.2282 (846/3708, TWINSUK)
G=0.4085 (1197/2930, KOREAN)
G=0.4116 (754/1832, Korea1K)
A=0.212 (212/998, GoNL)
A=0.213 (128/600, NorthernSweden)
G=0.367 (116/316, SGDP_PRJ)
A=0.157 (34/216, Qatari)
A=0.491 (106/216, Vietnamese)
G=0.33 (14/42, Siberian)
A=0.23 (9/40, 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=0.77374	A=0.22626
European	Sub	14286	G=0.76228	A=0.23772
African	Sub	2946	G=0.8751	A=0.1249
African Others	Sub	114	G=0.895	A=0.105
African American	Sub	2832	G=0.8743	A=0.1257
Asian	Sub	112	G=0.393	A=0.607
East Asian	Sub	86	G=0.36	A=0.64
Other Asian	Sub	26	G=0.50	A=0.50
Latin American 1	Sub	146	G=0.808	A=0.192
Latin American 2	Sub	610	G=0.620	A=0.380
South Asian	Sub	98	G=0.68	A=0.32
Other	Sub	692	G=0.782	A=0.218

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=0.770924	A=0.229076
gnomAD - Genomes	Global	Study-wide	139980	G=0.785769	A=0.214231
gnomAD - Genomes	European	Sub	75814	G=0.77264	A=0.22736
gnomAD - Genomes	African	Sub	41948	G=0.87194	A=0.12806
gnomAD - Genomes	American	Sub	13646	G=0.68526	A=0.31474
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.7470	A=0.2530
gnomAD - Genomes	East Asian	Sub	3110	G=0.4450	A=0.5550
gnomAD - Genomes	Other	Sub	2142	G=0.7582	A=0.2418
14KJPN	JAPANESE	Study-wide	28258	G=0.47445	A=0.52555
Allele Frequency Aggregator	Total	Global	18890	G=0.77374	A=0.22626
Allele Frequency Aggregator	European	Sub	14286	G=0.76228	A=0.23772
Allele Frequency Aggregator	African	Sub	2946	G=0.8751	A=0.1249
Allele Frequency Aggregator	Other	Sub	692	G=0.782	A=0.218
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.620	A=0.380
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.808	A=0.192
Allele Frequency Aggregator	Asian	Sub	112	G=0.393	A=0.607
Allele Frequency Aggregator	South Asian	Sub	98	G=0.68	A=0.32
8.3KJPN	JAPANESE	Study-wide	16760	G=0.47589	A=0.52411
1000Genomes_30x	Global	Study-wide	6404	G=0.6991	A=0.3009
1000Genomes_30x	African	Sub	1786	G=0.8992	A=0.1008
1000Genomes_30x	Europe	Sub	1266	G=0.7567	A=0.2433
1000Genomes_30x	South Asian	Sub	1202	G=0.6772	A=0.3228
1000Genomes_30x	East Asian	Sub	1170	G=0.4709	A=0.5291
1000Genomes_30x	American	Sub	980	G=0.559	A=0.441
1000Genomes	Global	Study-wide	5008	G=0.6979	A=0.3021
1000Genomes	African	Sub	1322	G=0.8964	A=0.1036
1000Genomes	East Asian	Sub	1008	G=0.4722	A=0.5278
1000Genomes	Europe	Sub	1006	G=0.7584	A=0.2416
1000Genomes	South Asian	Sub	978	G=0.687	A=0.313
1000Genomes	American	Sub	694	G=0.575	A=0.425
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.7636	A=0.2364
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7644	A=0.2356
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7718	A=0.2282
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.4085	A=0.5915
Korean Genome Project	KOREAN	Study-wide	1832	G=0.4116	A=0.5884
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.788	A=0.212
Northern Sweden	ACPOP	Study-wide	600	G=0.787	A=0.213
SGDP_PRJ	Global	Study-wide	316	G=0.367	A=0.633
Qatari	Global	Study-wide	216	G=0.843	A=0.157
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.509	A=0.491
Siberian	Global	Study-wide	42	G=0.33	A=0.67
The Danish reference pan genome	Danish	Study-wide	40	G=0.78	A=0.23

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.162477553G>A
GRCh37.p13 chr 4	NC_000004.11:g.163398705G>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.162477553=	NC_000004.12:g.162477553G>A
GRCh37.p13 chr 4	NC_000004.11:g.163398705=	NC_000004.11:g.163398705G>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#.

59 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10123701	Jul 11, 2003 (116)
2	SC_SNP	ss14809576	Dec 05, 2003 (120)
3	CSHL-HAPMAP	ss17031247	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss19592313	Feb 27, 2004 (120)
5	ABI	ss42236799	Mar 14, 2006 (126)
6	HGSV	ss78135965	Dec 07, 2007 (129)
7	BGI	ss105880801	Feb 04, 2009 (130)
8	GMI	ss154522643	Dec 01, 2009 (131)
9	ENSEMBL	ss161514722	Dec 01, 2009 (131)
10	COMPLETE_GENOMICS	ss164913600	Jul 04, 2010 (132)
11	BL	ss253690709	May 09, 2011 (134)
12	GMI	ss278023825	May 04, 2012 (137)
13	PJP	ss293241930	May 09, 2011 (134)
14	1000GENOMES	ss332092835	May 09, 2011 (134)
15	SSMP	ss651821562	Apr 25, 2013 (138)
16	EVA-GONL	ss980921258	Aug 21, 2014 (142)
17	JMKIDD_LAB	ss1072140710	Aug 21, 2014 (142)
18	1000GENOMES	ss1312729532	Aug 21, 2014 (142)
19	DDI	ss1430127396	Apr 01, 2015 (144)
20	EVA_GENOME_DK	ss1580872645	Apr 01, 2015 (144)
21	EVA_DECODE	ss1590437565	Apr 01, 2015 (144)
22	EVA_UK10K_ALSPAC	ss1611655518	Apr 01, 2015 (144)
23	EVA_UK10K_TWINSUK	ss1654649551	Apr 01, 2015 (144)
24	HAMMER_LAB	ss1802511742	Sep 08, 2015 (146)
25	WEILL_CORNELL_DGM	ss1924161848	Feb 12, 2016 (147)
26	JJLAB	ss2022669535	Sep 14, 2016 (149)
27	USC_VALOUEV	ss2150801556	Dec 20, 2016 (150)
28	HUMAN_LONGEVITY	ss2269030156	Dec 20, 2016 (150)
29	SYSTEMSBIOZJU	ss2625829356	Nov 08, 2017 (151)
30	GRF	ss2706303215	Nov 08, 2017 (151)
31	GNOMAD	ss2817878631	Nov 08, 2017 (151)
32	SWEGEN	ss2995924898	Nov 08, 2017 (151)
33	BIOINF_KMB_FNS_UNIBA	ss3025113434	Nov 08, 2017 (151)
34	CSHL	ss3346069747	Nov 08, 2017 (151)
35	EGCUT_WGS	ss3663838939	Jul 13, 2019 (153)
36	EVA_DECODE	ss3713506608	Jul 13, 2019 (153)
37	ACPOP	ss3731807915	Jul 13, 2019 (153)
38	EVA	ss3762689569	Jul 13, 2019 (153)
39	KHV_HUMAN_GENOMES	ss3805849466	Jul 13, 2019 (153)
40	EVA	ss3828926186	Apr 26, 2020 (154)
41	EVA	ss3837914528	Apr 26, 2020 (154)
42	EVA	ss3843355454	Apr 26, 2020 (154)
43	SGDP_PRJ	ss3860535534	Apr 26, 2020 (154)
44	KRGDB	ss3906897361	Apr 26, 2020 (154)
45	KOGIC	ss3955547653	Apr 26, 2020 (154)
46	TOPMED	ss4639990741	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5169037656	Apr 26, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5261821775	Oct 13, 2022 (156)
49	EVA	ss5353760099	Oct 13, 2022 (156)
50	HUGCELL_USP	ss5460293146	Oct 13, 2022 (156)
51	EVA	ss5507817770	Oct 13, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5544350976	Oct 13, 2022 (156)
53	SANFORD_IMAGENETICS	ss5636561262	Oct 13, 2022 (156)
54	TOMMO_GENOMICS	ss5704314416	Oct 13, 2022 (156)
55	YY_MCH	ss5805737020	Oct 13, 2022 (156)
56	EVA	ss5845029605	Oct 13, 2022 (156)
57	EVA	ss5854541206	Oct 13, 2022 (156)
58	EVA	ss5866417453	Oct 13, 2022 (156)
59	EVA	ss5964970239	Oct 13, 2022 (156)
60	1000Genomes	NC_000004.11 - 163398705	Oct 12, 2018 (152)
61	1000Genomes_30x	NC_000004.12 - 162477553	Oct 13, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 163398705	Oct 12, 2018 (152)
63	Genetic variation in the Estonian population	NC_000004.11 - 163398705	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000004.11 - 163398705	Apr 26, 2020 (154)
65	gnomAD - Genomes	NC_000004.12 - 162477553	Apr 26, 2021 (155)
66	Genome of the Netherlands Release 5	NC_000004.11 - 163398705	Apr 26, 2020 (154)
67	KOREAN population from KRGDB	NC_000004.11 - 163398705	Apr 26, 2020 (154)
68	Korean Genome Project	NC_000004.12 - 162477553	Apr 26, 2020 (154)
69	Northern Sweden	NC_000004.11 - 163398705	Jul 13, 2019 (153)
70	Qatari	NC_000004.11 - 163398705	Apr 26, 2020 (154)
71	SGDP_PRJ	NC_000004.11 - 163398705	Apr 26, 2020 (154)
72	Siberian	NC_000004.11 - 163398705	Apr 26, 2020 (154)
73	8.3KJPN	NC_000004.11 - 163398705	Apr 26, 2021 (155)
74	14KJPN	NC_000004.12 - 162477553	Oct 13, 2022 (156)
75	TopMed	NC_000004.12 - 162477553	Apr 26, 2021 (155)
76	UK 10K study - Twins	NC_000004.11 - 163398705	Oct 12, 2018 (152)
77	A Vietnamese Genetic Variation Database	NC_000004.11 - 163398705	Jul 13, 2019 (153)
78	ALFA	NC_000004.12 - 162477553	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).

Associated ID	History Updated (Build)
rs10461247	Feb 27, 2004 (120)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78135965	NC_000004.9:163756309:G:A	NC_000004.12:162477552:G:A	(self)
ss164913600, ss253690709, ss278023825, ss293241930, ss1590437565	NC_000004.10:163618154:G:A	NC_000004.12:162477552:G:A	(self)
24239463, 13483172, 9577187, 7037584, 5973083, 14074755, 5092780, 6203778, 12552514, 3317910, 27006963, 13483172, 2977083, ss332092835, ss651821562, ss980921258, ss1072140710, ss1312729532, ss1430127396, ss1580872645, ss1611655518, ss1654649551, ss1802511742, ss1924161848, ss2022669535, ss2150801556, ss2625829356, ss2706303215, ss2817878631, ss2995924898, ss3346069747, ss3663838939, ss3731807915, ss3762689569, ss3828926186, ss3837914528, ss3860535534, ss3906897361, ss5169037656, ss5353760099, ss5507817770, ss5636561262, ss5845029605, ss5964970239	NC_000004.11:163398704:G:A	NC_000004.12:162477552:G:A	(self)
31876911, 171670019, 11925654, 38151520, 477368297, 7199510192, ss2269030156, ss3025113434, ss3713506608, ss3805849466, ss3843355454, ss3955547653, ss4639990741, ss5261821775, ss5460293146, ss5544350976, ss5704314416, ss5805737020, ss5854541206, ss5866417453	NC_000004.12:162477552:G:A	NC_000004.12:162477552:G:A	(self)
ss14809576, ss42236799, ss105880801, ss154522643, ss161514722	NT_016354.19:87946425:G:A	NC_000004.12:162477552:G:A	(self)
ss10123701	NT_016606.15:24918369:G:A	NC_000004.12:162477552:G:A	(self)
ss17031247, ss19592313	NT_016606.16:24946760:G:A	NC_000004.12:162477552: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 rs6822923

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

rs6822923