Name: rs4815153
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.

rs4815153

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:22886313 (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: C=0.263931 (69860/264690, TOPMED)
C=0.240138 (34624/144184, ALFA)
C=0.250903 (35134/140030, GnomAD) (+ 17 more)
C=0.37662 (10605/28158, 14KJPN)
C=0.36844 (6175/16760, 8.3KJPN)
C=0.2601 (1666/6404, 1000G_30x)
C=0.2622 (1313/5008, 1000G)
C=0.2018 (904/4480, Estonian)
C=0.2330 (898/3854, ALSPAC)
C=0.2246 (833/3708, TWINSUK)
C=0.3662 (1073/2930, KOREAN)
C=0.2123 (239/1126, Daghestan)
C=0.226 (226/998, GoNL)
C=0.205 (123/600, NorthernSweden)
C=0.235 (118/502, SGDP_PRJ)
C=0.255 (81/318, HapMap)
C=0.278 (60/216, Qatari)
C=0.292 (62/212, Vietnamese)
C=0.19 (10/52, Siberian)
C=0.35 (14/40, 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	144184	C=0.240138	A=0.000000, T=0.759862
European	Sub	124086	C=0.233161	A=0.000000, T=0.766839
African	Sub	6156	C=0.2976	A=0.0000, T=0.7024
African Others	Sub	216	C=0.343	A=0.000, T=0.657
African American	Sub	5940	C=0.2960	A=0.0000, T=0.7040
Asian	Sub	620	C=0.316	A=0.000, T=0.684
East Asian	Sub	488	C=0.320	A=0.000, T=0.680
Other Asian	Sub	132	C=0.303	A=0.000, T=0.697
Latin American 1	Sub	734	C=0.302	A=0.000, T=0.698
Latin American 2	Sub	6252	C=0.2903	A=0.0000, T=0.7097
South Asian	Sub	184	C=0.163	A=0.000, T=0.837
Other	Sub	6152	C=0.2596	A=0.0000, T=0.7404

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=0.263931	T=0.736069
Allele Frequency Aggregator	Total	Global	144184	C=0.240138	A=0.000000, T=0.759862
Allele Frequency Aggregator	European	Sub	124086	C=0.233161	A=0.000000, T=0.766839
Allele Frequency Aggregator	Latin American 2	Sub	6252	C=0.2903	A=0.0000, T=0.7097
Allele Frequency Aggregator	African	Sub	6156	C=0.2976	A=0.0000, T=0.7024
Allele Frequency Aggregator	Other	Sub	6152	C=0.2596	A=0.0000, T=0.7404
Allele Frequency Aggregator	Latin American 1	Sub	734	C=0.302	A=0.000, T=0.698
Allele Frequency Aggregator	Asian	Sub	620	C=0.316	A=0.000, T=0.684
Allele Frequency Aggregator	South Asian	Sub	184	C=0.163	A=0.000, T=0.837
gnomAD - Genomes	Global	Study-wide	140030	C=0.250903	T=0.749097
gnomAD - Genomes	European	Sub	75864	C=0.21749	T=0.78251
gnomAD - Genomes	African	Sub	41938	C=0.28788	T=0.71212
gnomAD - Genomes	American	Sub	13632	C=0.29115	T=0.70885
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.2900	T=0.7100
gnomAD - Genomes	East Asian	Sub	3128	C=0.3344	T=0.6656
gnomAD - Genomes	Other	Sub	2144	C=0.2715	T=0.7285
14KJPN	JAPANESE	Study-wide	28158	C=0.37662	T=0.62338
8.3KJPN	JAPANESE	Study-wide	16760	C=0.36844	T=0.63156
1000Genomes_30x	Global	Study-wide	6404	C=0.2601	T=0.7399
1000Genomes_30x	African	Sub	1786	C=0.3052	T=0.6948
1000Genomes_30x	Europe	Sub	1266	C=0.2204	T=0.7796
1000Genomes_30x	South Asian	Sub	1202	C=0.1431	T=0.8569
1000Genomes_30x	East Asian	Sub	1170	C=0.3291	T=0.6709
1000Genomes_30x	American	Sub	980	C=0.291	T=0.709
1000Genomes	Global	Study-wide	5008	C=0.2622	T=0.7378
1000Genomes	African	Sub	1322	C=0.3041	T=0.6959
1000Genomes	East Asian	Sub	1008	C=0.3284	T=0.6716
1000Genomes	Europe	Sub	1006	C=0.2217	T=0.7783
1000Genomes	South Asian	Sub	978	C=0.150	T=0.850
1000Genomes	American	Sub	694	C=0.303	T=0.697
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.2018	T=0.7982
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.2330	T=0.7670
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.2246	T=0.7754
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.3662	T=0.6338
Genome-wide autozygosity in Daghestan	Global	Study-wide	1126	C=0.2123	T=0.7877
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	C=0.190	T=0.810
Genome-wide autozygosity in Daghestan	Near_East	Sub	140	C=0.207	T=0.793
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.295	T=0.705
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.259	T=0.741
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	C=0.17	T=0.83
Genome-wide autozygosity in Daghestan	Caucasus	Sub	34	C=0.32	T=0.68
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.226	T=0.774
Northern Sweden	ACPOP	Study-wide	600	C=0.205	T=0.795
SGDP_PRJ	Global	Study-wide	502	C=0.235	T=0.765
HapMap	Global	Study-wide	318	C=0.255	T=0.745
HapMap	American	Sub	118	C=0.195	T=0.805
HapMap	African	Sub	114	C=0.307	T=0.693
HapMap	Asian	Sub	86	C=0.27	T=0.73
Qatari	Global	Study-wide	216	C=0.278	T=0.722
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.292	T=0.708
Siberian	Global	Study-wide	52	C=0.19	T=0.81
The Danish reference pan genome	Danish	Study-wide	40	C=0.35	T=0.65

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.22886313C>A
GRCh38.p14 chr 20	NC_000020.11:g.22886313C>T
GRCh37.p13 chr 20	NC_000020.10:g.22866951C>A
GRCh37.p13 chr 20	NC_000020.10:g.22866951C>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 20	NC_000020.11:g.22886313=	NC_000020.11:g.22886313C>A	NC_000020.11:g.22886313C>T
GRCh37.p13 chr 20	NC_000020.10:g.22866951=	NC_000020.10:g.22866951C>A	NC_000020.10:g.22866951C>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#.

103 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6646965	Feb 20, 2003 (111)
2	SC_SNP	ss8343677	Apr 21, 2003 (117)
3	SSAHASNP	ss21795276	Apr 05, 2004 (121)
4	PERLEGEN	ss69239458	May 18, 2007 (127)
5	HGSV	ss78189823	Dec 06, 2007 (129)
6	HGSV	ss84977208	Dec 14, 2007 (130)
7	BCMHGSC_JDW	ss91668833	Mar 24, 2008 (129)
8	HUMANGENOME_JCVI	ss96191766	Feb 04, 2009 (130)
9	BGI	ss106183592	Feb 04, 2009 (130)
10	1000GENOMES	ss111870446	Jan 25, 2009 (130)
11	1000GENOMES	ss113210452	Jan 25, 2009 (130)
12	ILLUMINA-UK	ss117515917	Dec 01, 2009 (131)
13	ENSEMBL	ss135740538	Dec 01, 2009 (131)
14	ILLUMINA	ss160715611	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss167992878	Jul 04, 2010 (132)
16	COMPLETE_GENOMICS	ss169353370	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss172006645	Jul 04, 2010 (132)
18	ILLUMINA	ss173827396	Jul 04, 2010 (132)
19	BUSHMAN	ss203859084	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss208712627	Jul 04, 2010 (132)
21	1000GENOMES	ss228307835	Jul 14, 2010 (132)
22	1000GENOMES	ss237800325	Jul 15, 2010 (132)
23	1000GENOMES	ss243979188	Jul 15, 2010 (132)
24	BL	ss255546023	May 09, 2011 (134)
25	GMI	ss283335991	May 04, 2012 (137)
26	GMI	ss287438771	Apr 25, 2013 (138)
27	PJP	ss292631927	May 09, 2011 (134)
28	ILLUMINA	ss481060430	May 04, 2012 (137)
29	ILLUMINA	ss481082182	May 04, 2012 (137)
30	ILLUMINA	ss482076604	Sep 08, 2015 (146)
31	ILLUMINA	ss485325250	May 04, 2012 (137)
32	ILLUMINA	ss537278618	Sep 08, 2015 (146)
33	TISHKOFF	ss566195654	Apr 25, 2013 (138)
34	SSMP	ss662070129	Apr 25, 2013 (138)
35	ILLUMINA	ss778548579	Sep 08, 2015 (146)
36	ILLUMINA	ss783108437	Sep 08, 2015 (146)
37	ILLUMINA	ss784065497	Sep 08, 2015 (146)
38	ILLUMINA	ss832367085	Sep 08, 2015 (146)
39	ILLUMINA	ss834005281	Sep 08, 2015 (146)
40	EVA-GONL	ss994636899	Aug 21, 2014 (142)
41	JMKIDD_LAB	ss1082146010	Aug 21, 2014 (142)
42	1000GENOMES	ss1364425921	Aug 21, 2014 (142)
43	HAMMER_LAB	ss1397767436	Sep 08, 2015 (146)
44	DDI	ss1429024314	Apr 01, 2015 (144)
45	EVA_GENOME_DK	ss1579476194	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1638608197	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1681602230	Apr 01, 2015 (144)
48	EVA_DECODE	ss1698696015	Apr 01, 2015 (144)
49	ILLUMINA	ss1752380657	Sep 08, 2015 (146)
50	HAMMER_LAB	ss1809464155	Sep 08, 2015 (146)
51	WEILL_CORNELL_DGM	ss1938144047	Feb 12, 2016 (147)
52	GENOMED	ss1969114834	Jul 19, 2016 (147)
53	JJLAB	ss2029856906	Sep 14, 2016 (149)
54	USC_VALOUEV	ss2158409587	Dec 20, 2016 (150)
55	HUMAN_LONGEVITY	ss2242079296	Dec 20, 2016 (150)
56	SYSTEMSBIOZJU	ss2629423556	Nov 08, 2017 (151)
57	ILLUMINA	ss2633788531	Nov 08, 2017 (151)
58	GRF	ss2704086340	Nov 08, 2017 (151)
59	GNOMAD	ss2966442031	Nov 08, 2017 (151)
60	SWEGEN	ss3018010977	Nov 08, 2017 (151)
61	BIOINF_KMB_FNS_UNIBA	ss3028761401	Nov 08, 2017 (151)
62	CSHL	ss3352462156	Nov 08, 2017 (151)
63	ILLUMINA	ss3628372297	Oct 12, 2018 (152)
64	ILLUMINA	ss3631745710	Oct 12, 2018 (152)
65	ILLUMINA	ss3633248400	Oct 12, 2018 (152)
66	ILLUMINA	ss3633962339	Oct 12, 2018 (152)
67	ILLUMINA	ss3634831278	Oct 12, 2018 (152)
68	ILLUMINA	ss3635647470	Oct 12, 2018 (152)
69	ILLUMINA	ss3636523200	Oct 12, 2018 (152)
70	ILLUMINA	ss3637399552	Oct 12, 2018 (152)
71	ILLUMINA	ss3638340646	Oct 12, 2018 (152)
72	ILLUMINA	ss3640538575	Oct 12, 2018 (152)
73	URBANLAB	ss3650991450	Oct 12, 2018 (152)
74	EGCUT_WGS	ss3684738578	Jul 13, 2019 (153)
75	ACPOP	ss3743327679	Jul 13, 2019 (153)
76	ILLUMINA	ss3745131173	Jul 13, 2019 (153)
77	EVA	ss3758537502	Jul 13, 2019 (153)
78	ILLUMINA	ss3772627421	Jul 13, 2019 (153)
79	PACBIO	ss3788623822	Jul 13, 2019 (153)
80	PACBIO	ss3793520476	Jul 13, 2019 (153)
81	PACBIO	ss3798407656	Jul 13, 2019 (153)
82	KHV_HUMAN_GENOMES	ss3821705443	Jul 13, 2019 (153)
83	EVA	ss3835634319	Apr 27, 2020 (154)
84	EVA	ss3841443633	Apr 27, 2020 (154)
85	EVA	ss3846951806	Apr 27, 2020 (154)
86	SGDP_PRJ	ss3888919996	Apr 27, 2020 (154)
87	KRGDB	ss3939127057	Apr 27, 2020 (154)
88	EVA	ss4017843420	Apr 26, 2021 (155)
89	TOPMED	ss5085429678	Apr 26, 2021 (155)
90	TOMMO_GENOMICS	ss5229241377	Apr 26, 2021 (155)
91	1000G_HIGH_COVERAGE	ss5308396229	Oct 13, 2022 (156)
92	EVA	ss5316002380	Oct 13, 2022 (156)
93	HUGCELL_USP	ss5500769782	Oct 13, 2022 (156)
94	1000G_HIGH_COVERAGE	ss5614639591	Oct 13, 2022 (156)
95	SANFORD_IMAGENETICS	ss5663044216	Oct 13, 2022 (156)
96	TOMMO_GENOMICS	ss5788341393	Oct 13, 2022 (156)
97	EVA	ss5800019747	Oct 13, 2022 (156)
98	YY_MCH	ss5817895127	Oct 13, 2022 (156)
99	EVA	ss5845569146	Oct 13, 2022 (156)
100	EVA	ss5853107919	Oct 13, 2022 (156)
101	EVA	ss5923039920	Oct 13, 2022 (156)
102	EVA	ss5957959270	Oct 13, 2022 (156)
103	EVA	ss5981081493	Oct 13, 2022 (156)
104	1000Genomes	NC_000020.10 - 22866951	Oct 12, 2018 (152)
105	1000Genomes_30x	NC_000020.11 - 22886313	Oct 13, 2022 (156)
106	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 22866951	Oct 12, 2018 (152)
107	Genome-wide autozygosity in Daghestan	NC_000020.9 - 22814951	Apr 27, 2020 (154)
108	Genetic variation in the Estonian population	NC_000020.10 - 22866951	Oct 12, 2018 (152)
109	The Danish reference pan genome	NC_000020.10 - 22866951	Apr 27, 2020 (154)
110	gnomAD - Genomes	NC_000020.11 - 22886313	Apr 26, 2021 (155)
111	Genome of the Netherlands Release 5	NC_000020.10 - 22866951	Apr 27, 2020 (154)
112	HapMap	NC_000020.11 - 22886313	Apr 27, 2020 (154)
113	KOREAN population from KRGDB	NC_000020.10 - 22866951	Apr 27, 2020 (154)
114	Northern Sweden	NC_000020.10 - 22866951	Jul 13, 2019 (153)
115	Qatari	NC_000020.10 - 22866951	Apr 27, 2020 (154)
116	SGDP_PRJ	NC_000020.10 - 22866951	Apr 27, 2020 (154)
117	Siberian	NC_000020.10 - 22866951	Apr 27, 2020 (154)
118	8.3KJPN	NC_000020.10 - 22866951	Apr 26, 2021 (155)
119	14KJPN	NC_000020.11 - 22886313	Oct 13, 2022 (156)
120	TopMed	NC_000020.11 - 22886313	Apr 26, 2021 (155)
121	UK 10K study - Twins	NC_000020.10 - 22866951	Oct 12, 2018 (152)
122	A Vietnamese Genetic Variation Database	NC_000020.10 - 22866951	Jul 13, 2019 (153)
123	ALFA	NC_000020.11 - 22886313	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)
rs6036248	Aug 27, 2003 (117)
rs57194856	May 23, 2008 (130)
rs386595634	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
2204899124	NC_000020.11:22886312:C:A	NC_000020.11:22886312:C:A	(self)
281567, ss78189823, ss84977208, ss91668833, ss111870446, ss113210452, ss117515917, ss167992878, ss169353370, ss172006645, ss203859084, ss208712627, ss255546023, ss283335991, ss287438771, ss292631927, ss481060430, ss1397767436, ss1698696015	NC_000020.9:22814950:C:T	NC_000020.11:22886312:C:T	(self)
77877854, 43118987, 30476826, 5641133, 19213128, 46304451, 16612544, 20185969, 40936976, 10925941, 87210684, 43118987, 9521297, ss228307835, ss237800325, ss243979188, ss481082182, ss482076604, ss485325250, ss537278618, ss566195654, ss662070129, ss778548579, ss783108437, ss784065497, ss832367085, ss834005281, ss994636899, ss1082146010, ss1364425921, ss1429024314, ss1579476194, ss1638608197, ss1681602230, ss1752380657, ss1809464155, ss1938144047, ss1969114834, ss2029856906, ss2158409587, ss2629423556, ss2633788531, ss2704086340, ss2966442031, ss3018010977, ss3352462156, ss3628372297, ss3631745710, ss3633248400, ss3633962339, ss3634831278, ss3635647470, ss3636523200, ss3637399552, ss3638340646, ss3640538575, ss3684738578, ss3743327679, ss3745131173, ss3758537502, ss3772627421, ss3788623822, ss3793520476, ss3798407656, ss3835634319, ss3841443633, ss3888919996, ss3939127057, ss4017843420, ss5229241377, ss5316002380, ss5663044216, ss5800019747, ss5845569146, ss5957959270, ss5981081493	NC_000020.10:22866950:C:T	NC_000020.11:22886312:C:T	(self)
102165526, 549060217, 2099467, 122178497, 360538623, 2204899124, ss2242079296, ss3028761401, ss3650991450, ss3821705443, ss3846951806, ss5085429678, ss5308396229, ss5500769782, ss5614639591, ss5788341393, ss5817895127, ss5853107919, ss5923039920	NC_000020.11:22886312:C:T	NC_000020.11:22886312:C:T	(self)
ss6646965, ss8343677, ss21795276, ss69239458, ss96191766, ss106183592, ss135740538, ss160715611, ss173827396	NT_011387.8:22806950:C:T	NC_000020.11:22886312: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 rs4815153

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

rs4815153