Name: rs4362515
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.

rs4362515

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:20935868 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.191061 (50572/264690, TOPMED)
T=0.196049 (27459/140062, GnomAD)
T=0.20793 (16102/77438, ALFA) (+ 19 more)
T=0.00004 (1/28258, 14KJPN)
T=0.00006 (1/16760, 8.3KJPN)
T=0.1332 (853/6404, 1000G_30x)
T=0.1280 (641/5008, 1000G)
T=0.2033 (911/4480, Estonian)
T=0.2135 (823/3854, ALSPAC)
T=0.2176 (807/3708, TWINSUK)
T=0.0000 (0/2922, KOREAN)
T=0.1147 (239/2084, HGDP_Stanford)
T=0.1591 (259/1628, HapMap)
T=0.265 (264/998, GoNL)
T=0.144 (90/626, Chileans)
T=0.255 (153/600, NorthernSweden)
T=0.199 (43/216, Qatari)
T=0.18 (18/98, Ancient Sardinia)
C=0.48 (46/96, SGDP_PRJ)
T=0.20 (8/40, GENOME_DK)
C=0.5 (4/8, Siberian)
T=0.5 (4/8, Siberian)

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	77438	C=0.79207	T=0.20793
European	Sub	61358	C=0.77538	T=0.22462
African	Sub	5012	C=0.8093	T=0.1907
African Others	Sub	182	C=0.852	T=0.148
African American	Sub	4830	C=0.8077	T=0.1923
Asian	Sub	238	C=1.000	T=0.000
East Asian	Sub	164	C=1.000	T=0.000
Other Asian	Sub	74	C=1.00	T=0.00
Latin American 1	Sub	398	C=0.809	T=0.191
Latin American 2	Sub	3366	C=0.8630	T=0.1370
South Asian	Sub	4968	C=0.9092	T=0.0908
Other	Sub	2098	C=0.8208	T=0.1792

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	C=0.808939	T=0.191061
gnomAD - Genomes	Global	Study-wide	140062	C=0.803951	T=0.196049
gnomAD - Genomes	European	Sub	75872	C=0.78532	T=0.21468
gnomAD - Genomes	African	Sub	41948	C=0.81360	T=0.18640
gnomAD - Genomes	American	Sub	13640	C=0.84142	T=0.15858
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.7668	T=0.2332
gnomAD - Genomes	East Asian	Sub	3128	C=0.9994	T=0.0006
gnomAD - Genomes	Other	Sub	2150	C=0.8084	T=0.1916
Allele Frequency Aggregator	Total	Global	77438	C=0.79207	T=0.20793
Allele Frequency Aggregator	European	Sub	61358	C=0.77538	T=0.22462
Allele Frequency Aggregator	African	Sub	5012	C=0.8093	T=0.1907
Allele Frequency Aggregator	South Asian	Sub	4968	C=0.9092	T=0.0908
Allele Frequency Aggregator	Latin American 2	Sub	3366	C=0.8630	T=0.1370
Allele Frequency Aggregator	Other	Sub	2098	C=0.8208	T=0.1792
Allele Frequency Aggregator	Latin American 1	Sub	398	C=0.809	T=0.191
Allele Frequency Aggregator	Asian	Sub	238	C=1.000	T=0.000
14KJPN	JAPANESE	Study-wide	28258	C=0.99996	T=0.00004
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99994	T=0.00006
1000Genomes_30x	Global	Study-wide	6404	C=0.8668	T=0.1332
1000Genomes_30x	African	Sub	1786	C=0.7917	T=0.2083
1000Genomes_30x	Europe	Sub	1266	C=0.7899	T=0.2101
1000Genomes_30x	South Asian	Sub	1202	C=0.9343	T=0.0657
1000Genomes_30x	East Asian	Sub	1170	C=0.9974	T=0.0026
1000Genomes_30x	American	Sub	980	C=0.864	T=0.136
1000Genomes	Global	Study-wide	5008	C=0.8720	T=0.1280
1000Genomes	African	Sub	1322	C=0.7943	T=0.2057
1000Genomes	East Asian	Sub	1008	C=0.9980	T=0.0020
1000Genomes	Europe	Sub	1006	C=0.7952	T=0.2048
1000Genomes	South Asian	Sub	978	C=0.939	T=0.061
1000Genomes	American	Sub	694	C=0.854	T=0.146
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7967	T=0.2033
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7865	T=0.2135
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7824	T=0.2176
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=1.0000	T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.8853	T=0.1147
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.996	T=0.004
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.925	T=0.075
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.760	T=0.240
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.775	T=0.225
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.814	T=0.186
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.977	T=0.023
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=1.00	T=0.00
HapMap	Global	Study-wide	1628	C=0.8409	T=0.1591
HapMap	African	Sub	684	C=0.820	T=0.180
HapMap	American	Sub	598	C=0.844	T=0.156
HapMap	Europe	Sub	176	C=0.761	T=0.239
HapMap	Asian	Sub	170	C=0.994	T=0.006
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.735	T=0.265
Chileans	Chilean	Study-wide	626	C=0.856	T=0.144
Northern Sweden	ACPOP	Study-wide	600	C=0.745	T=0.255
Qatari	Global	Study-wide	216	C=0.801	T=0.199
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	98	C=0.82	T=0.18
SGDP_PRJ	Global	Study-wide	96	C=0.48	T=0.52
The Danish reference pan genome	Danish	Study-wide	40	C=0.80	T=0.20
Siberian	Global	Study-wide	8	C=0.5	T=0.5

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 2	NC_000002.12:g.20935868C>T
GRCh37.p13 chr 2	NC_000002.11:g.21135628C>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=	T
GRCh38.p14 chr 2	NC_000002.12:g.20935868=	NC_000002.12:g.20935868C>T
GRCh37.p13 chr 2	NC_000002.11:g.21135628=	NC_000002.11:g.21135628C>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#.

89 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss5811567	Feb 20, 2003 (111)
2	WUGSC_SSAHASNP	ss14496614	Dec 05, 2003 (119)
3	CSHL-HAPMAP	ss16852460	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss17662831	Feb 27, 2004 (120)
5	PERLEGEN	ss24628901	Sep 20, 2004 (123)
6	ABI	ss44239284	Mar 15, 2006 (126)
7	AFFY	ss66174364	Nov 30, 2006 (127)
8	ILLUMINA	ss66841782	Nov 30, 2006 (127)
9	ILLUMINA	ss67329969	Nov 30, 2006 (127)
10	ILLUMINA	ss67730222	Nov 30, 2006 (127)
11	PERLEGEN	ss68806544	May 17, 2007 (127)
12	ILLUMINA	ss70801473	May 26, 2008 (130)
13	ILLUMINA	ss71380374	May 17, 2007 (127)
14	ILLUMINA	ss75915433	Dec 06, 2007 (129)
15	AFFY	ss76232172	Dec 06, 2007 (129)
16	ILLUMINA	ss79180382	Dec 15, 2007 (130)
17	KRIBB_YJKIM	ss84257076	Dec 15, 2007 (130)
18	1000GENOMES	ss109937464	Jan 24, 2009 (130)
19	ILLUMINA	ss122300318	Dec 01, 2009 (131)
20	ENSEMBL	ss143134559	Dec 01, 2009 (131)
21	ILLUMINA	ss154291620	Dec 01, 2009 (131)
22	ILLUMINA	ss159468572	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss163179587	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss163983763	Jul 04, 2010 (132)
25	ILLUMINA	ss171782616	Jul 04, 2010 (132)
26	AFFY	ss172904256	Jul 04, 2010 (132)
27	ILLUMINA	ss173721271	Jul 04, 2010 (132)
28	BUSHMAN	ss200137651	Jul 04, 2010 (132)
29	ILLUMINA	ss209089727	Jul 04, 2010 (132)
30	1000GENOMES	ss219112421	Jul 14, 2010 (132)
31	1000GENOMES	ss231070627	Jul 14, 2010 (132)
32	GMI	ss284305028	Apr 25, 2013 (138)
33	PJP	ss292524959	May 09, 2011 (134)
34	ILLUMINA	ss410831213	Sep 17, 2011 (135)
35	ILLUMINA	ss537230487	Sep 08, 2015 (146)
36	TISHKOFF	ss555407393	Apr 25, 2013 (138)
37	SSMP	ss648986061	Apr 25, 2013 (138)
38	ILLUMINA	ss825510900	Jul 19, 2016 (147)
39	ILLUMINA	ss832980055	Jul 12, 2019 (153)
40	EVA-GONL	ss976570279	Aug 21, 2014 (142)
41	JMKIDD_LAB	ss1068922353	Aug 21, 2014 (142)
42	1000GENOMES	ss1296215835	Aug 21, 2014 (142)
43	DDI	ss1428502850	Apr 01, 2015 (144)
44	EVA_GENOME_DK	ss1578773799	Apr 01, 2015 (144)
45	EVA_DECODE	ss1585972370	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1602974197	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1645968230	Apr 01, 2015 (144)
48	EVA_SVP	ss1712437371	Apr 01, 2015 (144)
49	HAMMER_LAB	ss1796398175	Sep 08, 2015 (146)
50	WEILL_CORNELL_DGM	ss1919804003	Feb 12, 2016 (147)
51	JJLAB	ss2020429174	Sep 14, 2016 (149)
52	USC_VALOUEV	ss2148473756	Dec 20, 2016 (150)
53	HUMAN_LONGEVITY	ss2228143943	Dec 20, 2016 (150)
54	GNOMAD	ss2770581909	Nov 08, 2017 (151)
55	SWEGEN	ss2989101233	Nov 08, 2017 (151)
56	BIOINF_KMB_FNS_UNIBA	ss3023982163	Nov 08, 2017 (151)
57	CSHL	ss3344112242	Nov 08, 2017 (151)
58	ILLUMINA	ss3628009001	Oct 11, 2018 (152)
59	ILLUMINA	ss3638246517	Oct 11, 2018 (152)
60	ILLUMINA	ss3639128211	Oct 11, 2018 (152)
61	ILLUMINA	ss3639575449	Oct 11, 2018 (152)
62	ILLUMINA	ss3643217700	Oct 11, 2018 (152)
63	URBANLAB	ss3646982567	Oct 11, 2018 (152)
64	EGCUT_WGS	ss3657053631	Jul 12, 2019 (153)
65	EVA_DECODE	ss3703402616	Jul 12, 2019 (153)
66	ACPOP	ss3728220771	Jul 12, 2019 (153)
67	EVA	ss3756450799	Jul 12, 2019 (153)
68	KHV_HUMAN_GENOMES	ss3800834783	Jul 12, 2019 (153)
69	EVA	ss3826859760	Apr 25, 2020 (154)
70	HGDP	ss3847609437	Apr 25, 2020 (154)
71	SGDP_PRJ	ss3851754906	Apr 25, 2020 (154)
72	KRGDB	ss3897151630	Apr 25, 2020 (154)
73	EVA	ss3984878266	Apr 26, 2021 (155)
74	EVA	ss4016983706	Apr 26, 2021 (155)
75	TOPMED	ss4496777930	Apr 26, 2021 (155)
76	TOMMO_GENOMICS	ss5150211011	Apr 26, 2021 (155)
77	EVA	ss5237289666	Apr 26, 2021 (155)
78	1000G_HIGH_COVERAGE	ss5247181675	Oct 13, 2022 (156)
79	EVA	ss5327298421	Oct 13, 2022 (156)
80	HUGCELL_USP	ss5447467520	Oct 13, 2022 (156)
81	EVA	ss5506320340	Oct 13, 2022 (156)
82	1000G_HIGH_COVERAGE	ss5521940244	Oct 13, 2022 (156)
83	SANFORD_IMAGENETICS	ss5628247675	Oct 13, 2022 (156)
84	TOMMO_GENOMICS	ss5678498226	Oct 13, 2022 (156)
85	EVA	ss5819762895	Oct 13, 2022 (156)
86	EVA	ss5852422185	Oct 13, 2022 (156)
87	EVA	ss5929337193	Oct 13, 2022 (156)
88	EVA	ss5954445074	Oct 13, 2022 (156)
89	EVA	ss5979558596	Oct 13, 2022 (156)
90	1000Genomes	NC_000002.11 - 21135628	Oct 11, 2018 (152)
91	1000Genomes_30x	NC_000002.12 - 20935868	Oct 13, 2022 (156)
92	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 21135628	Oct 11, 2018 (152)
93	Chileans	NC_000002.11 - 21135628	Apr 25, 2020 (154)
94	Genetic variation in the Estonian population	NC_000002.11 - 21135628	Oct 11, 2018 (152)
95	The Danish reference pan genome	NC_000002.11 - 21135628	Apr 25, 2020 (154)
96	gnomAD - Genomes	NC_000002.12 - 20935868	Apr 26, 2021 (155)
97	Genome of the Netherlands Release 5	NC_000002.11 - 21135628	Apr 25, 2020 (154)
98	HGDP-CEPH-db Supplement 1	NC_000002.10 - 20999109	Apr 25, 2020 (154)
99	HapMap	NC_000002.12 - 20935868	Apr 25, 2020 (154)
100	KOREAN population from KRGDB	NC_000002.11 - 21135628	Apr 25, 2020 (154)
101	Northern Sweden	NC_000002.11 - 21135628	Jul 12, 2019 (153)
102	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000002.11 - 21135628	Apr 26, 2021 (155)
103	Qatari	NC_000002.11 - 21135628	Apr 25, 2020 (154)
104	SGDP_PRJ	NC_000002.11 - 21135628	Apr 25, 2020 (154)
105	Siberian	NC_000002.11 - 21135628	Apr 25, 2020 (154)
106	8.3KJPN	NC_000002.11 - 21135628	Apr 26, 2021 (155)
107	14KJPN	NC_000002.12 - 20935868	Oct 13, 2022 (156)
108	TopMed	NC_000002.12 - 20935868	Apr 26, 2021 (155)
109	UK 10K study - Twins	NC_000002.11 - 21135628	Oct 11, 2018 (152)
110	ALFA	NC_000002.12 - 20935868	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)
rs17343242	Oct 07, 2004 (123)
rs60923504	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639128211, ss3639575449	NC_000002.9:21057255:C:T	NC_000002.12:20935867:C:T	(self)
287329, ss66174364, ss76232172, ss109937464, ss163179587, ss163983763, ss172904256, ss200137651, ss284305028, ss292524959, ss825510900, ss1585972370, ss1712437371, ss3643217700, ss3847609437	NC_000002.10:20999108:C:T	NC_000002.12:20935867:C:T	(self)
7127845, 3956693, 212371, 2791879, 4950525, 1740893, 4329024, 1505636, 104193, 1845933, 3771886, 990110, 8180318, 3956693, ss219112421, ss231070627, ss537230487, ss555407393, ss648986061, ss832980055, ss976570279, ss1068922353, ss1296215835, ss1428502850, ss1578773799, ss1602974197, ss1645968230, ss1796398175, ss1919804003, ss2020429174, ss2148473756, ss2770581909, ss2989101233, ss3344112242, ss3628009001, ss3638246517, ss3657053631, ss3728220771, ss3756450799, ss3826859760, ss3851754906, ss3897151630, ss3984878266, ss4016983706, ss5150211011, ss5237289666, ss5327298421, ss5506320340, ss5628247675, ss5819762895, ss5954445074, ss5979558596	NC_000002.11:21135627:C:T	NC_000002.12:20935867:C:T	(self)
9466179, 50635353, 1751061, 12335330, 300600809, 4492476808, ss2228143943, ss3023982163, ss3646982567, ss3703402616, ss3800834783, ss4496777930, ss5247181675, ss5447467520, ss5521940244, ss5678498226, ss5852422185, ss5929337193	NC_000002.12:20935867:C:T	NC_000002.12:20935867:C:T	(self)
ss14496614, ss16852460, ss17662831	NT_015926.13:4777704:C:T	NC_000002.12:20935867:C:T	(self)
ss5811567, ss24628901, ss44239284, ss66841782, ss67329969, ss67730222, ss68806544, ss70801473, ss71380374, ss75915433, ss79180382, ss84257076, ss122300318, ss143134559, ss154291620, ss159468572, ss171782616, ss173721271, ss209089727, ss410831213	NT_015926.15:4805903:C:T	NC_000002.12:20935867: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 rs4362515

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

rs4362515