Name: rs2423503
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.

rs2423503

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:10364746 (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 / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.322479 (85357/264690, TOPMED)
A=0.339741 (47610/140136, GnomAD)
A=0.36781 (12376/33648, ALFA) (+ 18 more)
A=0.00237 (67/28258, 14KJPN)
A=0.00227 (38/16760, 8.3KJPN)
A=0.2445 (1566/6404, 1000G_30x)
A=0.2436 (1220/5008, 1000G)
A=0.4143 (1856/4480, Estonian)
A=0.4009 (1545/3854, ALSPAC)
A=0.4061 (1506/3708, TWINSUK)
A=0.0017 (5/2930, KOREAN)
A=0.0022 (4/1832, Korea1K)
A=0.3843 (425/1106, Daghestan)
A=0.439 (438/998, GoNL)
A=0.315 (189/600, NorthernSweden)
A=0.143 (75/524, SGDP_PRJ)
A=0.282 (61/216, Qatari)
A=0.005 (1/214, Vietnamese)
A=0.25 (12/48, Siberian)
A=0.50 (20/40, GENOME_DK)
G=0.50 (20/40, 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	33648	A=0.36781	G=0.63219
European	Sub	24824	A=0.40694	G=0.59306
African	Sub	5794	A=0.2266	G=0.7734
African Others	Sub	208	A=0.173	G=0.827
African American	Sub	5586	A=0.2286	G=0.7714
Asian	Sub	130	A=0.015	G=0.985
East Asian	Sub	102	A=0.020	G=0.980
Other Asian	Sub	28	A=0.00	G=1.00
Latin American 1	Sub	168	A=0.357	G=0.643
Latin American 2	Sub	700	A=0.299	G=0.701
South Asian	Sub	116	A=0.259	G=0.741
Other	Sub	1916	A=0.3445	G=0.6555

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	A=0.322479	G=0.677521
gnomAD - Genomes	Global	Study-wide	140136	A=0.339741	G=0.660259
gnomAD - Genomes	European	Sub	75880	A=0.40847	G=0.59153
gnomAD - Genomes	African	Sub	42006	A=0.24063	G=0.75937
gnomAD - Genomes	American	Sub	13640	A=0.33739	G=0.66261
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.3688	G=0.6312
gnomAD - Genomes	East Asian	Sub	3134	A=0.0112	G=0.9888
gnomAD - Genomes	Other	Sub	2152	A=0.2993	G=0.7007
Allele Frequency Aggregator	Total	Global	33648	A=0.36781	G=0.63219
Allele Frequency Aggregator	European	Sub	24824	A=0.40694	G=0.59306
Allele Frequency Aggregator	African	Sub	5794	A=0.2266	G=0.7734
Allele Frequency Aggregator	Other	Sub	1916	A=0.3445	G=0.6555
Allele Frequency Aggregator	Latin American 2	Sub	700	A=0.299	G=0.701
Allele Frequency Aggregator	Latin American 1	Sub	168	A=0.357	G=0.643
Allele Frequency Aggregator	Asian	Sub	130	A=0.015	G=0.985
Allele Frequency Aggregator	South Asian	Sub	116	A=0.259	G=0.741
14KJPN	JAPANESE	Study-wide	28258	A=0.00237	G=0.99763
8.3KJPN	JAPANESE	Study-wide	16760	A=0.00227	G=0.99773
1000Genomes_30x	Global	Study-wide	6404	A=0.2445	G=0.7555
1000Genomes_30x	African	Sub	1786	A=0.2055	G=0.7945
1000Genomes_30x	Europe	Sub	1266	A=0.4250	G=0.5750
1000Genomes_30x	South Asian	Sub	1202	A=0.2845	G=0.7155
1000Genomes_30x	East Asian	Sub	1170	A=0.0068	G=0.9932
1000Genomes_30x	American	Sub	980	A=0.317	G=0.683
1000Genomes	Global	Study-wide	5008	A=0.2436	G=0.7564
1000Genomes	African	Sub	1322	A=0.2110	G=0.7890
1000Genomes	East Asian	Sub	1008	A=0.0069	G=0.9931
1000Genomes	Europe	Sub	1006	A=0.4394	G=0.5606
1000Genomes	South Asian	Sub	978	A=0.278	G=0.722
1000Genomes	American	Sub	694	A=0.317	G=0.683
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4143	G=0.5857
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4009	G=0.5991
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4061	G=0.5939
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.0017	G=0.9983
Korean Genome Project	KOREAN	Study-wide	1832	A=0.0022	G=0.9978
Genome-wide autozygosity in Daghestan	Global	Study-wide	1106	A=0.3843	G=0.6157
Genome-wide autozygosity in Daghestan	Daghestan	Sub	612	A=0.410	G=0.590
Genome-wide autozygosity in Daghestan	Near_East	Sub	140	A=0.393	G=0.607
Genome-wide autozygosity in Daghestan	Central Asia	Sub	116	A=0.310	G=0.690
Genome-wide autozygosity in Daghestan	Europe	Sub	106	A=0.453	G=0.547
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	A=0.24	G=0.76
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.33	G=0.67
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.439	G=0.561
Northern Sweden	ACPOP	Study-wide	600	A=0.315	G=0.685
SGDP_PRJ	Global	Study-wide	524	A=0.143	G=0.857
Qatari	Global	Study-wide	216	A=0.282	G=0.718
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.005	G=0.995
Siberian	Global	Study-wide	48	A=0.25	G=0.75
The Danish reference pan genome	Danish	Study-wide	40	A=0.50	G=0.50

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.10364746A>G
GRCh38.p14 chr 20	NC_000020.11:g.10364746A>T
GRCh37.p13 chr 20	NC_000020.10:g.10345394A>G
GRCh37.p13 chr 20	NC_000020.10:g.10345394A>T

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	T
GRCh38.p14 chr 20	NC_000020.11:g.10364746=	NC_000020.11:g.10364746A>G	NC_000020.11:g.10364746A>T
GRCh37.p13 chr 20	NC_000020.10:g.10345394=	NC_000020.10:g.10345394A>G	NC_000020.10:g.10345394A>T

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#.

92 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3393199	Sep 28, 2001 (100)
2	SC_SNP	ss8339045	Apr 21, 2003 (114)
3	CSHL-HAPMAP	ss20129098	Feb 27, 2004 (120)
4	ABI	ss41364576	Mar 14, 2006 (126)
5	HGSV	ss84772375	Dec 15, 2007 (130)
6	BCMHGSC_JDW	ss91637792	Mar 24, 2008 (129)
7	HUMANGENOME_JCVI	ss96214974	Feb 05, 2009 (130)
8	BGI	ss106178938	Feb 05, 2009 (130)
9	1000GENOMES	ss113083491	Jan 25, 2009 (130)
10	IGMI-SNU	ss115461918	Feb 05, 2009 (130)
11	ILLUMINA-UK	ss117484358	Feb 14, 2009 (130)
12	ENSEMBL	ss133014024	Dec 01, 2009 (131)
13	ENSEMBL	ss138209980	Dec 01, 2009 (131)
14	GMI	ss156162863	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss167809467	Jul 04, 2010 (132)
16	COMPLETE_GENOMICS	ss169081613	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss171897500	Jul 04, 2010 (132)
18	BUSHMAN	ss203830582	Jul 04, 2010 (132)
19	BCM-HGSC-SUB	ss208627887	Jul 04, 2010 (132)
20	1000GENOMES	ss210953556	Jul 14, 2010 (132)
21	1000GENOMES	ss228256609	Jul 14, 2010 (132)
22	1000GENOMES	ss237762634	Jul 15, 2010 (132)
23	1000GENOMES	ss243949185	Jul 15, 2010 (132)
24	BL	ss255481301	May 09, 2011 (134)
25	GMI	ss283299995	May 04, 2012 (137)
26	GMI	ss287422640	Apr 25, 2013 (138)
27	PJP	ss292610480	May 09, 2011 (134)
28	ILLUMINA	ss480748419	May 04, 2012 (137)
29	ILLUMINA	ss484156916	May 04, 2012 (137)
30	ILLUMINA	ss533921220	Sep 08, 2015 (146)
31	TISHKOFF	ss566135855	Apr 25, 2013 (138)
32	SSMP	ss662006842	Apr 25, 2013 (138)
33	ILLUMINA	ss779787482	Sep 08, 2015 (146)
34	ILLUMINA	ss781308351	Sep 08, 2015 (146)
35	ILLUMINA	ss835263264	Sep 08, 2015 (146)
36	EVA-GONL	ss994538876	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1082073268	Aug 21, 2014 (142)
38	1000GENOMES	ss1364064827	Aug 21, 2014 (142)
39	HAMMER_LAB	ss1397763885	Sep 08, 2015 (146)
40	DDI	ss1428995749	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1579437059	Apr 01, 2015 (144)
42	EVA_UK10K_ALSPAC	ss1638412448	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1681406481	Apr 01, 2015 (144)
44	EVA_DECODE	ss1698594863	Apr 01, 2015 (144)
45	HAMMER_LAB	ss1809422601	Sep 08, 2015 (146)
46	WEILL_CORNELL_DGM	ss1938049359	Feb 12, 2016 (147)
47	GENOMED	ss1969090882	Jul 19, 2016 (147)
48	JJLAB	ss2029803958	Sep 14, 2016 (149)
49	USC_VALOUEV	ss2158357665	Dec 20, 2016 (150)
50	HUMAN_LONGEVITY	ss2241327053	Dec 20, 2016 (150)
51	SYSTEMSBIOZJU	ss2629399083	Nov 08, 2017 (151)
52	ILLUMINA	ss2633777314	Nov 08, 2017 (151)
53	GRF	ss2704030947	Nov 08, 2017 (151)
54	GNOMAD	ss2965432670	Nov 08, 2017 (151)
55	SWEGEN	ss3017867840	Nov 08, 2017 (151)
56	BIOINF_KMB_FNS_UNIBA	ss3028734967	Nov 08, 2017 (151)
57	CSHL	ss3352419261	Nov 08, 2017 (151)
58	ILLUMINA	ss3628351246	Oct 12, 2018 (152)
59	ILLUMINA	ss3631735075	Oct 12, 2018 (152)
60	ILLUMINA	ss3641125198	Oct 12, 2018 (152)
61	ILLUMINA	ss3641421378	Oct 12, 2018 (152)
62	ILLUMINA	ss3642173420	Oct 12, 2018 (152)
63	URBANLAB	ss3650971330	Oct 12, 2018 (152)
64	EGCUT_WGS	ss3684584914	Jul 13, 2019 (153)
65	EVA_DECODE	ss3706559631	Jul 13, 2019 (153)
66	ACPOP	ss3743248850	Jul 13, 2019 (153)
67	EVA	ss3758421668	Jul 13, 2019 (153)
68	PACBIO	ss3788599566	Jul 13, 2019 (153)
69	PACBIO	ss3793499852	Jul 13, 2019 (153)
70	PACBIO	ss3798386997	Jul 13, 2019 (153)
71	KHV_HUMAN_GENOMES	ss3821595451	Jul 13, 2019 (153)
72	EVA	ss3835587959	Apr 27, 2020 (154)
73	EVA	ss3841418844	Apr 27, 2020 (154)
74	EVA	ss3846926550	Apr 27, 2020 (154)
75	SGDP_PRJ	ss3888732414	Apr 27, 2020 (154)
76	KRGDB	ss3938921236	Apr 27, 2020 (154)
77	KOGIC	ss3981822950	Apr 27, 2020 (154)
78	TOPMED	ss5082264151	Apr 27, 2021 (155)
79	TOMMO_GENOMICS	ss5228840498	Apr 27, 2021 (155)
80	1000G_HIGH_COVERAGE	ss5308085899	Oct 13, 2022 (156)
81	EVA	ss5315994818	Oct 13, 2022 (156)
82	EVA	ss5436261314	Oct 13, 2022 (156)
83	HUGCELL_USP	ss5500486370	Oct 13, 2022 (156)
84	1000G_HIGH_COVERAGE	ss5614167110	Oct 13, 2022 (156)
85	SANFORD_IMAGENETICS	ss5662865281	Oct 13, 2022 (156)
86	TOMMO_GENOMICS	ss5787828643	Oct 13, 2022 (156)
87	YY_MCH	ss5817816234	Oct 13, 2022 (156)
88	EVA	ss5845444384	Oct 13, 2022 (156)
89	EVA	ss5853068944	Oct 13, 2022 (156)
90	EVA	ss5922674858	Oct 13, 2022 (156)
91	EVA	ss5957766760	Oct 13, 2022 (156)
92	EVA	ss5981076612	Oct 13, 2022 (156)
93	1000Genomes	NC_000020.10 - 10345394	Oct 12, 2018 (152)
94	1000Genomes_30x	NC_000020.11 - 10364746	Oct 13, 2022 (156)
95	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 10345394	Oct 12, 2018 (152)
96	Genome-wide autozygosity in Daghestan	NC_000020.9 - 10293394	Apr 27, 2020 (154)
97	Genetic variation in the Estonian population	NC_000020.10 - 10345394	Oct 12, 2018 (152)
98	The Danish reference pan genome	NC_000020.10 - 10345394	Apr 27, 2020 (154)
99	gnomAD - Genomes	NC_000020.11 - 10364746	Apr 27, 2021 (155)
100	Genome of the Netherlands Release 5	NC_000020.10 - 10345394	Apr 27, 2020 (154)
101	KOREAN population from KRGDB	NC_000020.10 - 10345394	Apr 27, 2020 (154)
102	Korean Genome Project	NC_000020.11 - 10364746	Apr 27, 2020 (154)
103	Northern Sweden	NC_000020.10 - 10345394	Jul 13, 2019 (153)
104	Qatari	NC_000020.10 - 10345394	Apr 27, 2020 (154)
105	SGDP_PRJ	NC_000020.10 - 10345394	Apr 27, 2020 (154)
106	Siberian	NC_000020.10 - 10345394	Apr 27, 2020 (154)
107	8.3KJPN	NC_000020.10 - 10345394	Apr 27, 2021 (155)
108	14KJPN	NC_000020.11 - 10364746	Oct 13, 2022 (156)
109	TopMed	NC_000020.11 - 10364746	Apr 27, 2021 (155)
110	UK 10K study - Twins	NC_000020.10 - 10345394	Oct 12, 2018 (152)
111	A Vietnamese Genetic Variation Database	NC_000020.10 - 10345394	Jul 13, 2019 (153)
112	ALFA	NC_000020.11 - 10364746	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)
rs59585616	May 25, 2008 (130)
rs386438360	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
278065, ss84772375, ss91637792, ss113083491, ss117484358, ss167809467, ss169081613, ss171897500, ss203830582, ss208627887, ss210953556, ss255481301, ss283299995, ss287422640, ss292610480, ss484156916, ss1397763885, ss1698594863	NC_000020.9:10293393:A:G	NC_000020.11:10364745:A:G	(self)
77504314, 42904991, 30323162, 5601998, 19116990, 46098630, 16533715, 20091281, 40749394, 10874019, 86809805, 42904991, 9472088, ss228256609, ss237762634, ss243949185, ss480748419, ss533921220, ss566135855, ss662006842, ss779787482, ss781308351, ss835263264, ss994538876, ss1082073268, ss1364064827, ss1428995749, ss1579437059, ss1638412448, ss1681406481, ss1809422601, ss1938049359, ss1969090882, ss2029803958, ss2158357665, ss2629399083, ss2633777314, ss2704030947, ss2965432670, ss3017867840, ss3352419261, ss3628351246, ss3631735075, ss3641125198, ss3641421378, ss3642173420, ss3684584914, ss3743248850, ss3758421668, ss3788599566, ss3793499852, ss3798386997, ss3835587959, ss3841418844, ss3888732414, ss3938921236, ss5228840498, ss5315994818, ss5436261314, ss5662865281, ss5845444384, ss5957766760, ss5981076612	NC_000020.10:10345393:A:G	NC_000020.11:10364745:A:G	(self)
101693045, 546483107, 38200951, 121665747, 357373096, 2363019400, ss2241327053, ss3028734967, ss3650971330, ss3706559631, ss3821595451, ss3846926550, ss3981822950, ss5082264151, ss5308085899, ss5500486370, ss5614167110, ss5787828643, ss5817816234, ss5853068944, ss5922674858	NC_000020.11:10364745:A:G	NC_000020.11:10364745:A:G	(self)
ss3393199, ss8339045, ss20129098, ss41364576, ss96214974, ss106178938, ss115461918, ss133014024, ss138209980, ss156162863	NT_011387.8:10285393:A:G	NC_000020.11:10364745:A:G	(self)
ss1428995749	NC_000020.10:10345393:A:T	NC_000020.11:10364745:A:T	(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 rs2423503

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

rs2423503