Name: rs4815132
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.

rs4815132

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:22661195 (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: T>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.281888 (74613/264690, TOPMED)
T=0.288470 (39949/138486, GnomAD)
T=0.16729 (4727/28256, 14KJPN) (+ 16 more)
T=0.29037 (5172/17812, ALFA)
T=0.17019 (2852/16758, 8.3KJPN)
T=0.2442 (1564/6404, 1000G_30x)
T=0.2436 (1220/5008, 1000G)
T=0.2939 (1313/4468, Estonian)
T=0.2662 (1026/3854, ALSPAC)
T=0.2611 (968/3708, TWINSUK)
T=0.1383 (405/2928, KOREAN)
T=0.1403 (257/1832, Korea1K)
T=0.262 (261/998, GoNL)
T=0.278 (166/598, NorthernSweden)
T=0.134 (69/516, SGDP_PRJ)
T=0.239 (74/310, HapMap)
T=0.315 (68/216, Qatari)
T=0.12 (6/48, Siberian)
T=0.12 (5/40, 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	17812	T=0.29037	A=0.00000, C=0.70963
European	Sub	13668	T=0.28183	A=0.00000, C=0.71817
African	Sub	2490	T=0.3871	A=0.0000, C=0.6129
African Others	Sub	98	T=0.44	A=0.00, C=0.56
African American	Sub	2392	T=0.3850	A=0.0000, C=0.6150
Asian	Sub	112	T=0.161	A=0.000, C=0.839
East Asian	Sub	86	T=0.19	A=0.00, C=0.81
Other Asian	Sub	26	T=0.08	A=0.00, C=0.92
Latin American 1	Sub	146	T=0.308	A=0.000, C=0.692
Latin American 2	Sub	610	T=0.141	A=0.000, C=0.859
South Asian	Sub	98	T=0.29	A=0.00, C=0.71
Other	Sub	688	T=0.260	A=0.000, C=0.740

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	T=0.281888	C=0.718112
gnomAD - Genomes	Global	Study-wide	138486	T=0.288470	C=0.711530
gnomAD - Genomes	European	Sub	75244	T=0.26605	C=0.73395
gnomAD - Genomes	African	Sub	41190	T=0.36960	C=0.63040
gnomAD - Genomes	American	Sub	13512	T=0.19760	C=0.80240
gnomAD - Genomes	Ashkenazi Jewish	Sub	3310	T=0.3082	C=0.6918
gnomAD - Genomes	East Asian	Sub	3118	T=0.1315	C=0.8685
gnomAD - Genomes	Other	Sub	2112	T=0.2869	C=0.7131
14KJPN	JAPANESE	Study-wide	28256	T=0.16729	C=0.83271
Allele Frequency Aggregator	Total	Global	17812	T=0.29037	A=0.00000, C=0.70963
Allele Frequency Aggregator	European	Sub	13668	T=0.28183	A=0.00000, C=0.71817
Allele Frequency Aggregator	African	Sub	2490	T=0.3871	A=0.0000, C=0.6129
Allele Frequency Aggregator	Other	Sub	688	T=0.260	A=0.000, C=0.740
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.141	A=0.000, C=0.859
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.308	A=0.000, C=0.692
Allele Frequency Aggregator	Asian	Sub	112	T=0.161	A=0.000, C=0.839
Allele Frequency Aggregator	South Asian	Sub	98	T=0.29	A=0.00, C=0.71
8.3KJPN	JAPANESE	Study-wide	16758	T=0.17019	C=0.82981
1000Genomes_30x	Global	Study-wide	6404	T=0.2442	C=0.7558
1000Genomes_30x	African	Sub	1786	T=0.3735	C=0.6265
1000Genomes_30x	Europe	Sub	1266	T=0.2670	C=0.7330
1000Genomes_30x	South Asian	Sub	1202	T=0.1997	C=0.8003
1000Genomes_30x	East Asian	Sub	1170	T=0.1427	C=0.8573
1000Genomes_30x	American	Sub	980	T=0.155	C=0.845
1000Genomes	Global	Study-wide	5008	T=0.2436	C=0.7564
1000Genomes	African	Sub	1322	T=0.3782	C=0.6218
1000Genomes	East Asian	Sub	1008	T=0.1498	C=0.8502
1000Genomes	Europe	Sub	1006	T=0.2684	C=0.7316
1000Genomes	South Asian	Sub	978	T=0.197	C=0.803
1000Genomes	American	Sub	694	T=0.153	C=0.847
Genetic variation in the Estonian population	Estonian	Study-wide	4468	T=0.2939	C=0.7061
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.2662	C=0.7338
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.2611	C=0.7389
KOREAN population from KRGDB	KOREAN	Study-wide	2928	T=0.1383	A=0.0000, C=0.8617, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.1403	C=0.8597
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.262	C=0.738
Northern Sweden	ACPOP	Study-wide	598	T=0.278	C=0.722
SGDP_PRJ	Global	Study-wide	516	T=0.134	C=0.866
HapMap	Global	Study-wide	310	T=0.239	C=0.761
HapMap	American	Sub	116	T=0.181	C=0.819
HapMap	African	Sub	112	T=0.384	C=0.616
HapMap	Asian	Sub	82	T=0.12	C=0.88
Qatari	Global	Study-wide	216	T=0.315	C=0.685
Siberian	Global	Study-wide	48	T=0.12	C=0.88
The Danish reference pan genome	Danish	Study-wide	40	T=0.12	C=0.88

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.22661195T>A
GRCh38.p14 chr 20	NC_000020.11:g.22661195T>C
GRCh38.p14 chr 20	NC_000020.11:g.22661195T>G
GRCh37.p13 chr 20	NC_000020.10:g.22641833T>A
GRCh37.p13 chr 20	NC_000020.10:g.22641833T>C
GRCh37.p13 chr 20	NC_000020.10:g.22641833T>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	T=	A	C	G
GRCh38.p14 chr 20	NC_000020.11:g.22661195=	NC_000020.11:g.22661195T>A	NC_000020.11:g.22661195T>C	NC_000020.11:g.22661195T>G
GRCh37.p13 chr 20	NC_000020.10:g.22641833=	NC_000020.10:g.22641833T>A	NC_000020.10:g.22641833T>C	NC_000020.10:g.22641833T>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#.

72 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6646935	Feb 20, 2003 (111)
2	SC_SNP	ss8359706	Apr 21, 2003 (114)
3	HGSV	ss79071525	Dec 06, 2007 (129)
4	BCMHGSC_JDW	ss91668173	Mar 24, 2008 (129)
5	HUMANGENOME_JCVI	ss96191509	Feb 06, 2009 (130)
6	BGI	ss103741597	Dec 01, 2009 (131)
7	1000GENOMES	ss113208173	Jan 25, 2009 (130)
8	ILLUMINA-UK	ss117514911	Dec 01, 2009 (131)
9	ENSEMBL	ss135741468	Dec 01, 2009 (131)
10	GMI	ss156275556	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss167989979	Jul 04, 2010 (132)
12	COMPLETE_GENOMICS	ss169348736	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss172004256	Jul 04, 2010 (132)
14	BUSHMAN	ss203858362	Jul 04, 2010 (132)
15	BCM-HGSC-SUB	ss208661817	Jul 04, 2010 (132)
16	1000GENOMES	ss228306558	Jul 14, 2010 (132)
17	1000GENOMES	ss237799629	Jul 15, 2010 (132)
18	1000GENOMES	ss243978610	Jul 15, 2010 (132)
19	BL	ss255544595	May 09, 2011 (134)
20	GMI	ss283335430	May 04, 2012 (137)
21	GMI	ss287438486	Apr 25, 2013 (138)
22	PJP	ss292631451	May 09, 2011 (134)
23	TISHKOFF	ss566194102	Apr 25, 2013 (138)
24	SSMP	ss662068954	Apr 25, 2013 (138)
25	EVA-GONL	ss994634816	Aug 21, 2014 (142)
26	JMKIDD_LAB	ss1082144435	Aug 21, 2014 (142)
27	1000GENOMES	ss1364418103	Aug 21, 2014 (142)
28	DDI	ss1429023738	Apr 01, 2015 (144)
29	EVA_GENOME_DK	ss1579475430	Apr 01, 2015 (144)
30	EVA_UK10K_ALSPAC	ss1638603912	Apr 01, 2015 (144)
31	EVA_UK10K_TWINSUK	ss1681597945	Apr 01, 2015 (144)
32	EVA_DECODE	ss1698694000	Apr 01, 2015 (144)
33	HAMMER_LAB	ss1809463094	Sep 08, 2015 (146)
34	WEILL_CORNELL_DGM	ss1938141903	Feb 12, 2016 (147)
35	GENOMED	ss1969114401	Jul 19, 2016 (147)
36	JJLAB	ss2029855903	Sep 14, 2016 (149)
37	USC_VALOUEV	ss2158408693	Dec 20, 2016 (150)
38	SYSTEMSBIOZJU	ss2629423277	Nov 08, 2017 (151)
39	GRF	ss2704085331	Nov 08, 2017 (151)
40	GNOMAD	ss2966421663	Nov 08, 2017 (151)
41	SWEGEN	ss3018008306	Nov 08, 2017 (151)
42	BIOINF_KMB_FNS_UNIBA	ss3028760882	Nov 08, 2017 (151)
43	CSHL	ss3352461349	Nov 08, 2017 (151)
44	URBANLAB	ss3650991003	Oct 12, 2018 (152)
45	EGCUT_WGS	ss3684735467	Jul 13, 2019 (153)
46	EVA_DECODE	ss3706734262	Jul 13, 2019 (153)
47	ACPOP	ss3743326243	Jul 13, 2019 (153)
48	EVA	ss3758535164	Jul 13, 2019 (153)
49	PACBIO	ss3788623449	Jul 13, 2019 (153)
50	PACBIO	ss3793520178	Jul 13, 2019 (153)
51	PACBIO	ss3798407356	Jul 13, 2019 (153)
52	KHV_HUMAN_GENOMES	ss3821703126	Jul 13, 2019 (153)
53	EVA	ss3835633516	Apr 27, 2020 (154)
54	EVA	ss3841443136	Apr 27, 2020 (154)
55	EVA	ss3846951296	Apr 27, 2020 (154)
56	SGDP_PRJ	ss3888915999	Apr 27, 2020 (154)
57	KRGDB	ss3939123262	Apr 27, 2020 (154)
58	KOGIC	ss3981986725	Apr 27, 2020 (154)
59	TOPMED	ss5085365611	Apr 26, 2021 (155)
60	TOMMO_GENOMICS	ss5229233747	Apr 26, 2021 (155)
61	1000G_HIGH_COVERAGE	ss5308389814	Oct 13, 2022 (156)
62	EVA	ss5436831634	Oct 13, 2022 (156)
63	HUGCELL_USP	ss5500763958	Oct 13, 2022 (156)
64	EVA	ss5512186115	Oct 13, 2022 (156)
65	1000G_HIGH_COVERAGE	ss5614629613	Oct 13, 2022 (156)
66	SANFORD_IMAGENETICS	ss5663040420	Oct 13, 2022 (156)
67	TOMMO_GENOMICS	ss5788331712	Oct 13, 2022 (156)
68	YY_MCH	ss5817893656	Oct 13, 2022 (156)
69	EVA	ss5845566615	Oct 13, 2022 (156)
70	EVA	ss5853107249	Oct 13, 2022 (156)
71	EVA	ss5923032190	Oct 13, 2022 (156)
72	EVA	ss5957955165	Oct 13, 2022 (156)
73	1000Genomes	NC_000020.10 - 22641833	Oct 12, 2018 (152)
74	1000Genomes_30x	NC_000020.11 - 22661195	Oct 13, 2022 (156)
75	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 22641833	Oct 12, 2018 (152)
76	Genetic variation in the Estonian population	NC_000020.10 - 22641833	Oct 12, 2018 (152)
77	The Danish reference pan genome	NC_000020.10 - 22641833	Apr 27, 2020 (154)
78	gnomAD - Genomes	NC_000020.11 - 22661195	Apr 26, 2021 (155)
79	Genome of the Netherlands Release 5	NC_000020.10 - 22641833	Apr 27, 2020 (154)
80	HapMap	NC_000020.11 - 22661195	Apr 27, 2020 (154)
81	KOREAN population from KRGDB	NC_000020.10 - 22641833	Apr 27, 2020 (154)
82	Korean Genome Project	NC_000020.11 - 22661195	Apr 27, 2020 (154)
83	Northern Sweden	NC_000020.10 - 22641833	Jul 13, 2019 (153)
84	Qatari	NC_000020.10 - 22641833	Apr 27, 2020 (154)
85	SGDP_PRJ	NC_000020.10 - 22641833	Apr 27, 2020 (154)
86	Siberian	NC_000020.10 - 22641833	Apr 27, 2020 (154)
87	8.3KJPN	NC_000020.10 - 22641833	Apr 26, 2021 (155)
88	14KJPN	NC_000020.11 - 22661195	Oct 13, 2022 (156)
89	TopMed	NC_000020.11 - 22661195	Apr 26, 2021 (155)
90	UK 10K study - Twins	NC_000020.10 - 22641833	Oct 12, 2018 (152)
91	ALFA	NC_000020.11 - 22661195	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
46300656, ss3939123262	NC_000020.10:22641832:T:A	NC_000020.11:22661194:T:A	(self)
10748397812	NC_000020.11:22661194:T:A	NC_000020.11:22661194:T:A	(self)
ss79071525, ss91668173, ss113208173, ss117514911, ss167989979, ss169348736, ss172004256, ss203858362, ss208661817, ss255544595, ss283335430, ss287438486, ss292631451, ss1698694000	NC_000020.9:22589832:T:C	NC_000020.11:22661194:T:C	(self)
77869846, 43114392, 30473715, 5640369, 19211068, 46300656, 16611108, 20183825, 40932979, 10925047, 87203054, 43114392, ss228306558, ss237799629, ss243978610, ss566194102, ss662068954, ss994634816, ss1082144435, ss1364418103, ss1429023738, ss1579475430, ss1638603912, ss1681597945, ss1809463094, ss1938141903, ss1969114401, ss2029855903, ss2158408693, ss2629423277, ss2704085331, ss2966421663, ss3018008306, ss3352461349, ss3684735467, ss3743326243, ss3758535164, ss3788623449, ss3793520178, ss3798407356, ss3835633516, ss3841443136, ss3888915999, ss3939123262, ss5229233747, ss5436831634, ss5512186115, ss5663040420, ss5845566615, ss5957955165	NC_000020.10:22641832:T:C	NC_000020.11:22661194:T:C	(self)
102155548, 549008781, 2098803, 38364726, 122168816, 360474556, 10748397812, ss3028760882, ss3650991003, ss3706734262, ss3821703126, ss3846951296, ss3981986725, ss5085365611, ss5308389814, ss5500763958, ss5614629613, ss5788331712, ss5817893656, ss5853107249, ss5923032190	NC_000020.11:22661194:T:C	NC_000020.11:22661194:T:C	(self)
ss6646935, ss8359706, ss96191509, ss103741597, ss135741468, ss156275556	NT_011387.8:22581832:T:C	NC_000020.11:22661194:T:C	(self)
46300656, ss3939123262	NC_000020.10:22641832:T:G	NC_000020.11:22661194:T: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 rs4815132

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

rs4815132