Name: rs4817938
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.

rs4817938

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:38318197 (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: C>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.495871 (131252/264690, TOPMED)
C=0.498153 (68759/138028, GnomAD)
T=0.30161 (8523/28258, 14KJPN) (+ 12 more)
T=0.29574 (4956/16758, 8.3KJPN)
T=0.3788 (3531/9322, ALFA)
T=0.3918 (2509/6404, 1000G_30x)
T=0.3936 (1971/5008, 1000G)
C=0.4908 (2195/4472, Estonian)
T=0.2964 (543/1832, Korea1K)
C=0.373 (372/998, GoNL)
C=0.412 (247/600, NorthernSweden)
C=0.349 (118/338, SGDP_PRJ)
T=0.491 (106/216, Qatari)
T=0.194 (42/216, Vietnamese)
T=0.1 (1/8, KOREAN)

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	9322	C=0.6212	A=0.0000, T=0.3788
European	Sub	7838	C=0.5556	A=0.0000, T=0.4444
African	Sub	1060	C=0.9717	A=0.0000, T=0.0283
African Others	Sub	48	C=0.98	A=0.00, T=0.02
African American	Sub	1012	C=0.9713	A=0.0000, T=0.0287
Asian	Sub	54	C=0.98	A=0.00, T=0.02
East Asian	Sub	36	C=0.97	A=0.00, T=0.03
Other Asian	Sub	18	C=1.00	A=0.00, T=0.00
Latin American 1	Sub	36	C=1.00	A=0.00, T=0.00
Latin American 2	Sub	130	C=1.000	A=0.000, T=0.000
South Asian	Sub	40	C=0.95	A=0.00, T=0.05
Other	Sub	164	C=0.909	A=0.000, T=0.091

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	C=0.504129	T=0.495871
gnomAD - Genomes	Global	Study-wide	138028	C=0.498153	T=0.501847
gnomAD - Genomes	European	Sub	75006	C=0.43382	T=0.56618
gnomAD - Genomes	African	Sub	41078	C=0.60891	T=0.39109
gnomAD - Genomes	American	Sub	13424	C=0.48018	T=0.51982
gnomAD - Genomes	Ashkenazi Jewish	Sub	3312	C=0.4487	T=0.5513
gnomAD - Genomes	East Asian	Sub	3094	C=0.7072	T=0.2928
gnomAD - Genomes	Other	Sub	2114	C=0.5142	T=0.4858
14KJPN	JAPANESE	Study-wide	28258	C=0.69839	T=0.30161
8.3KJPN	JAPANESE	Study-wide	16758	C=0.70426	T=0.29574
Allele Frequency Aggregator	Total	Global	9322	C=0.6212	A=0.0000, T=0.3788
Allele Frequency Aggregator	European	Sub	7838	C=0.5556	A=0.0000, T=0.4444
Allele Frequency Aggregator	African	Sub	1060	C=0.9717	A=0.0000, T=0.0283
Allele Frequency Aggregator	Other	Sub	164	C=0.909	A=0.000, T=0.091
Allele Frequency Aggregator	Latin American 2	Sub	130	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	54	C=0.98	A=0.00, T=0.02
Allele Frequency Aggregator	South Asian	Sub	40	C=0.95	A=0.00, T=0.05
Allele Frequency Aggregator	Latin American 1	Sub	36	C=1.00	A=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.6082	T=0.3918
1000Genomes_30x	African	Sub	1786	C=0.6405	T=0.3595
1000Genomes_30x	Europe	Sub	1266	C=0.4787	T=0.5213
1000Genomes_30x	South Asian	Sub	1202	C=0.6647	T=0.3353
1000Genomes_30x	East Asian	Sub	1170	C=0.7444	T=0.2556
1000Genomes_30x	American	Sub	980	C=0.485	T=0.515
1000Genomes	Global	Study-wide	5008	C=0.6064	T=0.3936
1000Genomes	African	Sub	1322	C=0.6301	T=0.3699
1000Genomes	East Asian	Sub	1008	C=0.7480	T=0.2520
1000Genomes	Europe	Sub	1006	C=0.4702	T=0.5298
1000Genomes	South Asian	Sub	978	C=0.660	T=0.340
1000Genomes	American	Sub	694	C=0.478	T=0.522
Genetic variation in the Estonian population	Estonian	Study-wide	4472	C=0.4908	T=0.5092
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7036	T=0.2964
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.373	T=0.627
Northern Sweden	ACPOP	Study-wide	600	C=0.412	T=0.588
SGDP_PRJ	Global	Study-wide	338	C=0.349	T=0.651
Qatari	Global	Study-wide	216	C=0.509	T=0.491
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.806	T=0.194
KOREAN population from KRGDB	KOREAN	Study-wide	8	C=0.9	T=0.1

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 21	NC_000021.9:g.38318197C>A
GRCh38.p14 chr 21	NC_000021.9:g.38318197C>T
GRCh37.p13 chr 21	NC_000021.8:g.39690119C>A
GRCh37.p13 chr 21	NC_000021.8:g.39690119C>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	C=	A	T
GRCh38.p14 chr 21	NC_000021.9:g.38318197=	NC_000021.9:g.38318197C>A	NC_000021.9:g.38318197C>T
GRCh37.p13 chr 21	NC_000021.8:g.39690119=	NC_000021.8:g.39690119C>A	NC_000021.8:g.39690119C>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#.

54 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6651995	Feb 20, 2003 (111)
2	WI_SSAHASNP	ss11195389	Jul 11, 2003 (117)
3	WUGSC_SSAHASNP	ss14435038	Dec 05, 2003 (123)
4	SSAHASNP	ss21820406	Apr 05, 2004 (121)
5	HGSV	ss77635513	Dec 07, 2007 (129)
6	HUMANGENOME_JCVI	ss96169233	Feb 04, 2009 (130)
7	ENSEMBL	ss144049614	Dec 01, 2009 (131)
8	COMPLETE_GENOMICS	ss168025825	Jul 04, 2010 (132)
9	COMPLETE_GENOMICS	ss169492592	Jul 04, 2010 (132)
10	BUSHMAN	ss204017491	Jul 04, 2010 (132)
11	BL	ss255955443	May 09, 2011 (134)
12	GMI	ss283542369	May 04, 2012 (137)
13	PJP	ss292710966	May 09, 2011 (134)
14	1000GENOMES	ss341020120	May 09, 2011 (134)
15	TISHKOFF	ss566496974	Apr 25, 2013 (138)
16	SSMP	ss662407406	Apr 25, 2013 (138)
17	EVA-GONL	ss995122023	Aug 21, 2014 (142)
18	1000GENOMES	ss1366304519	Aug 21, 2014 (142)
19	DDI	ss1429185028	Apr 01, 2015 (144)
20	HAMMER_LAB	ss1809688033	Sep 08, 2015 (146)
21	WEILL_CORNELL_DGM	ss1938672081	Feb 12, 2016 (147)
22	GENOMED	ss1969225841	Jul 19, 2016 (147)
23	HUMAN_LONGEVITY	ss2245809620	Dec 20, 2016 (150)
24	SYSTEMSBIOZJU	ss2629553046	Nov 08, 2017 (151)
25	GRF	ss2704443666	Nov 08, 2017 (151)
26	GNOMAD	ss2971846216	Nov 08, 2017 (151)
27	SWEGEN	ss3018898605	Nov 08, 2017 (151)
28	BIOINF_KMB_FNS_UNIBA	ss3028892786	Nov 08, 2017 (151)
29	CSHL	ss3352720221	Nov 08, 2017 (151)
30	URBANLAB	ss3651116049	Oct 12, 2018 (152)
31	EGCUT_WGS	ss3685475678	Jul 13, 2019 (153)
32	ACPOP	ss3743735457	Jul 13, 2019 (153)
33	EVA	ss3759112207	Jul 13, 2019 (153)
34	PACBIO	ss3788763485	Jul 13, 2019 (153)
35	PACBIO	ss3793637479	Jul 13, 2019 (153)
36	PACBIO	ss3798523725	Jul 13, 2019 (153)
37	KHV_HUMAN_GENOMES	ss3822278488	Jul 13, 2019 (153)
38	EVA	ss3835875854	Apr 27, 2020 (154)
39	EVA	ss3841565115	Apr 27, 2020 (154)
40	EVA	ss3847078566	Apr 27, 2020 (154)
41	SGDP_PRJ	ss3890010353	Apr 27, 2020 (154)
42	KRGDB	ss3940359283	Apr 27, 2020 (154)
43	KOGIC	ss3983103564	Apr 27, 2020 (154)
44	TOPMED	ss5101780584	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5231552083	Apr 26, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5310233378	Oct 16, 2022 (156)
47	EVA	ss5439916486	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5617383747	Oct 16, 2022 (156)
49	SANFORD_IMAGENETICS	ss5664022493	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5792070630	Oct 16, 2022 (156)
51	YY_MCH	ss5818447473	Oct 16, 2022 (156)
52	EVA	ss5839046769	Oct 16, 2022 (156)
53	EVA	ss5892374007	Oct 16, 2022 (156)
54	EVA	ss5958918625	Oct 16, 2022 (156)
55	1000Genomes	NC_000021.8 - 39690119	Oct 12, 2018 (152)
56	1000Genomes_30x	NC_000021.9 - 38318197	Oct 16, 2022 (156)
57	Genetic variation in the Estonian population	NC_000021.8 - 39690119	Oct 12, 2018 (152)
58	gnomAD - Genomes	NC_000021.9 - 38318197	Apr 26, 2021 (155)
59	Genome of the Netherlands Release 5	NC_000021.8 - 39690119	Apr 27, 2020 (154)
60	KOREAN population from KRGDB	NC_000021.8 - 39690119	Apr 27, 2020 (154)
61	Korean Genome Project	NC_000021.9 - 38318197	Apr 27, 2020 (154)
62	Northern Sweden	NC_000021.8 - 39690119	Jul 13, 2019 (153)
63	Qatari	NC_000021.8 - 39690119	Apr 27, 2020 (154)
64	SGDP_PRJ	NC_000021.8 - 39690119	Apr 27, 2020 (154)
65	8.3KJPN	NC_000021.8 - 39690119	Apr 26, 2021 (155)
66	14KJPN	NC_000021.9 - 38318197	Oct 16, 2022 (156)
67	TopMed	NC_000021.9 - 38318197	Apr 26, 2021 (155)
68	A Vietnamese Genetic Variation Database	NC_000021.8 - 39690119	Jul 13, 2019 (153)
69	ALFA	NC_000021.9 - 38318197	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)
rs7410184	Aug 27, 2003 (117)
rs10319107	Sep 24, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3350283760	NC_000021.9:38318196:C:A	NC_000021.9:38318196:C:A	(self)
ss77635513, ss168025825, ss169492592, ss204017491, ss255955443, ss283542369, ss292710966	NC_000021.7:38611988:C:T	NC_000021.9:38318196:C:T	(self)
79825082, 31213926, 19679765, 47536677, 17020322, 20714003, 42027333, 89521390, 9747376, ss341020120, ss566496974, ss662407406, ss995122023, ss1366304519, ss1429185028, ss1809688033, ss1938672081, ss1969225841, ss2629553046, ss2704443666, ss2971846216, ss3018898605, ss3352720221, ss3685475678, ss3743735457, ss3759112207, ss3788763485, ss3793637479, ss3798523725, ss3835875854, ss3841565115, ss3890010353, ss3940359283, ss5231552083, ss5439916486, ss5664022493, ss5839046769, ss5958918625	NC_000021.8:39690118:C:T	NC_000021.9:38318196:C:T	(self)
104909682, 563323931, 39481565, 125907734, 376889530, 3350283760, ss2245809620, ss3028892786, ss3651116049, ss3822278488, ss3847078566, ss3983103564, ss5101780584, ss5310233378, ss5617383747, ss5792070630, ss5818447473, ss5892374007	NC_000021.9:38318196:C:T	NC_000021.9:38318196:C:T	(self)
ss11195389	NT_011512.8:25350513:C:T	NC_000021.9:38318196:C:T	(self)
ss14435038, ss21820406	NT_011512.9:25350514:C:T	NC_000021.9:38318196:C:T	(self)
ss6651995, ss96169233, ss144049614	NT_011512.11:25351989:C:T	NC_000021.9:38318196:C: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 rs4817938

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

rs4817938