Name: rs4321645
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.

rs4321645

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:38409831 (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=0.309789 (81998/264690, TOPMED)
T=0.324439 (45450/140088, GnomAD)
T=0.12138 (3430/28258, 14KJPN) (+ 16 more)
T=0.36013 (8870/24630, ALFA)
T=0.11796 (1977/16760, 8.3KJPN)
T=0.2767 (1772/6404, 1000G_30x)
T=0.2819 (1412/5008, 1000G)
T=0.4147 (1858/4480, Estonian)
T=0.4017 (1548/3854, ALSPAC)
T=0.3800 (1409/3708, TWINSUK)
T=0.1276 (374/2930, KOREAN)
T=0.1124 (206/1832, Korea1K)
T=0.385 (384/998, GoNL)
T=0.410 (246/600, NorthernSweden)
T=0.190 (98/516, SGDP_PRJ)
T=0.343 (74/216, Qatari)
T=0.065 (14/216, Vietnamese)
T=0.20 (9/46, Siberian)
C=0.47 (19/40, 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	24630	T=0.36013	A=0.00000, C=0.63987
European	Sub	16844	T=0.40685	A=0.00000, C=0.59315
African	Sub	3114	T=0.2197	A=0.0000, C=0.7803
African Others	Sub	102	T=0.186	A=0.000, C=0.814
African American	Sub	3012	T=0.2208	A=0.0000, C=0.7792
Asian	Sub	158	T=0.089	A=0.000, C=0.911
East Asian	Sub	102	T=0.108	A=0.000, C=0.892
Other Asian	Sub	56	T=0.05	A=0.00, C=0.95
Latin American 1	Sub	292	T=0.349	A=0.000, C=0.651
Latin American 2	Sub	2770	T=0.2686	A=0.0000, C=0.7314
South Asian	Sub	110	T=0.536	A=0.000, C=0.464
Other	Sub	1342	T=0.3085	A=0.0000, C=0.6915

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=0.309789	C=0.690211
gnomAD - Genomes	Global	Study-wide	140088	T=0.324439	C=0.675561
gnomAD - Genomes	European	Sub	75868	T=0.40519	C=0.59481
gnomAD - Genomes	African	Sub	41970	T=0.20705	C=0.79295
gnomAD - Genomes	American	Sub	13646	T=0.27979	C=0.72021
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.3766	C=0.6234
gnomAD - Genomes	East Asian	Sub	3128	T=0.0892	C=0.9108
gnomAD - Genomes	Other	Sub	2154	T=0.3115	C=0.6885
14KJPN	JAPANESE	Study-wide	28258	T=0.12138	C=0.87862
Allele Frequency Aggregator	Total	Global	24630	T=0.36013	A=0.00000, C=0.63987
Allele Frequency Aggregator	European	Sub	16844	T=0.40685	A=0.00000, C=0.59315
Allele Frequency Aggregator	African	Sub	3114	T=0.2197	A=0.0000, C=0.7803
Allele Frequency Aggregator	Latin American 2	Sub	2770	T=0.2686	A=0.0000, C=0.7314
Allele Frequency Aggregator	Other	Sub	1342	T=0.3085	A=0.0000, C=0.6915
Allele Frequency Aggregator	Latin American 1	Sub	292	T=0.349	A=0.000, C=0.651
Allele Frequency Aggregator	Asian	Sub	158	T=0.089	A=0.000, C=0.911
Allele Frequency Aggregator	South Asian	Sub	110	T=0.536	A=0.000, C=0.464
8.3KJPN	JAPANESE	Study-wide	16760	T=0.11796	C=0.88204
1000Genomes_30x	Global	Study-wide	6404	T=0.2767	C=0.7233
1000Genomes_30x	African	Sub	1786	T=0.1820	C=0.8180
1000Genomes_30x	Europe	Sub	1266	T=0.3807	C=0.6193
1000Genomes_30x	South Asian	Sub	1202	T=0.4725	C=0.5275
1000Genomes_30x	East Asian	Sub	1170	T=0.1085	C=0.8915
1000Genomes_30x	American	Sub	980	T=0.276	C=0.724
1000Genomes	Global	Study-wide	5008	T=0.2819	C=0.7181
1000Genomes	African	Sub	1322	T=0.1861	C=0.8139
1000Genomes	East Asian	Sub	1008	T=0.1141	C=0.8859
1000Genomes	Europe	Sub	1006	T=0.3857	C=0.6143
1000Genomes	South Asian	Sub	978	T=0.483	C=0.517
1000Genomes	American	Sub	694	T=0.275	C=0.725
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.4147	C=0.5853
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4017	C=0.5983
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.3800	C=0.6200
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.1276	A=0.0000, C=0.8724, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.1124	C=0.8876
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.385	C=0.615
Northern Sweden	ACPOP	Study-wide	600	T=0.410	C=0.590
SGDP_PRJ	Global	Study-wide	516	T=0.190	C=0.810
Qatari	Global	Study-wide	216	T=0.343	C=0.657
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.065	C=0.935
Siberian	Global	Study-wide	46	T=0.20	C=0.80
The Danish reference pan genome	Danish	Study-wide	40	T=0.53	C=0.47

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 4	NC_000004.12:g.38409831T>A
GRCh38.p14 chr 4	NC_000004.12:g.38409831T>C
GRCh38.p14 chr 4	NC_000004.12:g.38409831T>G
GRCh37.p13 chr 4	NC_000004.11:g.38411452T>A
GRCh37.p13 chr 4	NC_000004.11:g.38411452T>C
GRCh37.p13 chr 4	NC_000004.11:g.38411452T>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 4	NC_000004.12:g.38409831=	NC_000004.12:g.38409831T>A	NC_000004.12:g.38409831T>C	NC_000004.12:g.38409831T>G
GRCh37.p13 chr 4	NC_000004.11:g.38411452=	NC_000004.11:g.38411452T>A	NC_000004.11:g.38411452T>C	NC_000004.11:g.38411452T>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#.

84 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss5736181	Feb 20, 2003 (111)
2	BCM_SSAHASNP	ss10170881	Jul 11, 2003 (116)
3	WI_SSAHASNP	ss11678463	Jul 11, 2003 (116)
4	CSHL-HAPMAP	ss19563968	Feb 27, 2004 (120)
5	SSAHASNP	ss22100812	Apr 05, 2004 (121)
6	ABI	ss42149107	Mar 13, 2006 (126)
7	AFFY	ss66037656	Nov 29, 2006 (127)
8	AFFY	ss75928083	Dec 07, 2007 (129)
9	KRIBB_YJKIM	ss82018941	Dec 14, 2007 (130)
10	HGSV	ss85373748	Dec 14, 2007 (130)
11	BCMHGSC_JDW	ss92538624	Mar 24, 2008 (129)
12	BGI	ss105820641	Feb 04, 2009 (130)
13	1000GENOMES	ss113034018	Jan 25, 2009 (130)
14	ENSEMBL	ss133358967	Dec 01, 2009 (131)
15	ENSEMBL	ss139547261	Dec 01, 2009 (131)
16	GMI	ss157115780	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss162028595	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss166455508	Jul 04, 2010 (132)
19	AFFY	ss169240791	Jul 04, 2010 (132)
20	BUSHMAN	ss198378545	Jul 04, 2010 (132)
21	BCM-HGSC-SUB	ss206341550	Jul 04, 2010 (132)
22	1000GENOMES	ss211393732	Jul 14, 2010 (132)
23	1000GENOMES	ss220866052	Jul 14, 2010 (132)
24	1000GENOMES	ss232349219	Jul 14, 2010 (132)
25	1000GENOMES	ss239651459	Jul 15, 2010 (132)
26	BL	ss253051449	May 09, 2011 (134)
27	GMI	ss277660416	May 04, 2012 (137)
28	GMI	ss284883827	Apr 25, 2013 (138)
29	PJP	ss293327773	May 09, 2011 (134)
30	TISHKOFF	ss557444861	Apr 25, 2013 (138)
31	SSMP	ss651227122	Apr 25, 2013 (138)
32	EVA-GONL	ss979994442	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1071448682	Aug 21, 2014 (142)
34	1000GENOMES	ss1309272300	Aug 21, 2014 (142)
35	DDI	ss1429843822	Apr 01, 2015 (144)
36	EVA_GENOME_DK	ss1580508256	Apr 01, 2015 (144)
37	EVA_DECODE	ss1589488620	Apr 01, 2015 (144)
38	EVA_UK10K_ALSPAC	ss1609856900	Apr 01, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1652850933	Apr 01, 2015 (144)
40	EVA_SVP	ss1712665967	Apr 01, 2015 (144)
41	HAMMER_LAB	ss1801291615	Sep 08, 2015 (146)
42	WEILL_CORNELL_DGM	ss1923225593	Feb 12, 2016 (147)
43	GENOMED	ss1969712729	Jul 19, 2016 (147)
44	JJLAB	ss2022196728	Sep 14, 2016 (149)
45	USC_VALOUEV	ss2150307574	Dec 20, 2016 (150)
46	HUMAN_LONGEVITY	ss2262130989	Dec 20, 2016 (150)
47	SYSTEMSBIOZJU	ss2625598847	Nov 08, 2017 (151)
48	GRF	ss2705760897	Nov 08, 2017 (151)
49	GNOMAD	ss2807959291	Nov 08, 2017 (151)
50	AFFY	ss2985290047	Nov 08, 2017 (151)
51	AFFY	ss2985912537	Nov 08, 2017 (151)
52	SWEGEN	ss2994478901	Nov 08, 2017 (151)
53	BIOINF_KMB_FNS_UNIBA	ss3024868396	Nov 08, 2017 (151)
54	CSHL	ss3345648788	Nov 08, 2017 (151)
55	URBANLAB	ss3647700287	Oct 12, 2018 (152)
56	ILLUMINA	ss3654060783	Oct 12, 2018 (152)
57	EGCUT_WGS	ss3662399914	Jul 13, 2019 (153)
58	EVA_DECODE	ss3711824234	Jul 13, 2019 (153)
59	ACPOP	ss3731048526	Jul 13, 2019 (153)
60	EVA	ss3761663507	Jul 13, 2019 (153)
61	PACBIO	ss3784679113	Jul 13, 2019 (153)
62	PACBIO	ss3790142242	Jul 13, 2019 (153)
63	PACBIO	ss3795017402	Jul 13, 2019 (153)
64	KHV_HUMAN_GENOMES	ss3804795090	Jul 13, 2019 (153)
65	EVA	ss3828481033	Apr 26, 2020 (154)
66	EVA	ss3837676537	Apr 26, 2020 (154)
67	EVA	ss3843111653	Apr 26, 2020 (154)
68	SGDP_PRJ	ss3858667655	Apr 26, 2020 (154)
69	KRGDB	ss3904841588	Apr 26, 2020 (154)
70	KOGIC	ss3953911714	Apr 26, 2020 (154)
71	TOPMED	ss4609934994	Apr 26, 2021 (155)
72	TOMMO_GENOMICS	ss5165126995	Apr 26, 2021 (155)
73	1000G_HIGH_COVERAGE	ss5258779216	Oct 17, 2022 (156)
74	EVA	ss5348239210	Oct 17, 2022 (156)
75	HUGCELL_USP	ss5457608002	Oct 17, 2022 (156)
76	EVA	ss5507470159	Oct 17, 2022 (156)
77	1000G_HIGH_COVERAGE	ss5539609656	Oct 17, 2022 (156)
78	SANFORD_IMAGENETICS	ss5634778407	Oct 17, 2022 (156)
79	TOMMO_GENOMICS	ss5699027289	Oct 17, 2022 (156)
80	YY_MCH	ss5804948953	Oct 17, 2022 (156)
81	EVA	ss5843838028	Oct 17, 2022 (156)
82	EVA	ss5854174532	Oct 17, 2022 (156)
83	EVA	ss5862992101	Oct 17, 2022 (156)
84	EVA	ss5963171123	Oct 17, 2022 (156)
85	1000Genomes	NC_000004.11 - 38411452	Oct 12, 2018 (152)
86	1000Genomes_30x	NC_000004.12 - 38409831	Oct 17, 2022 (156)
87	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 38411452	Oct 12, 2018 (152)
88	Genetic variation in the Estonian population	NC_000004.11 - 38411452	Oct 12, 2018 (152)
89	The Danish reference pan genome	NC_000004.11 - 38411452	Apr 26, 2020 (154)
90	gnomAD - Genomes	NC_000004.12 - 38409831	Apr 26, 2021 (155)
91	Genome of the Netherlands Release 5	NC_000004.11 - 38411452	Apr 26, 2020 (154)
92	KOREAN population from KRGDB	NC_000004.11 - 38411452	Apr 26, 2020 (154)
93	Korean Genome Project	NC_000004.12 - 38409831	Apr 26, 2020 (154)
94	Northern Sweden	NC_000004.11 - 38411452	Jul 13, 2019 (153)
95	Qatari	NC_000004.11 - 38411452	Apr 26, 2020 (154)
96	SGDP_PRJ	NC_000004.11 - 38411452	Apr 26, 2020 (154)
97	Siberian	NC_000004.11 - 38411452	Apr 26, 2020 (154)
98	8.3KJPN	NC_000004.11 - 38411452	Apr 26, 2021 (155)
99	14KJPN	NC_000004.12 - 38409831	Oct 17, 2022 (156)
100	TopMed	NC_000004.12 - 38409831	Apr 26, 2021 (155)
101	UK 10K study - Twins	NC_000004.11 - 38411452	Oct 12, 2018 (152)
102	A Vietnamese Genetic Variation Database	NC_000004.11 - 38411452	Jul 13, 2019 (153)
103	ALFA	NC_000004.12 - 38409831	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)
rs57417241	May 23, 2008 (130)
rs57506933	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
12018982, ss3904841588	NC_000004.11:38411451:T:A	NC_000004.12:38409830:T:A	(self)
10341567524	NC_000004.12:38409830:T:A	NC_000004.12:38409830:T:A	(self)
ss85373748	NC_000004.9:38234017:T:C	NC_000004.12:38409830:T:C	(self)
ss92538624, ss113034018, ss162028595, ss166455508, ss198378545, ss206341550, ss211393732, ss253051449, ss277660416, ss284883827, ss293327773, ss1589488620, ss1712665967	NC_000004.10:38087846:T:C	NC_000004.12:38409830:T:C	(self)
20650959, 11506736, 8138162, 6673195, 5070271, 12018982, 4333391, 5267523, 10684635, 2823928, 23096302, 11506736, 2525450, ss220866052, ss232349219, ss239651459, ss557444861, ss651227122, ss979994442, ss1071448682, ss1309272300, ss1429843822, ss1580508256, ss1609856900, ss1652850933, ss1801291615, ss1923225593, ss1969712729, ss2022196728, ss2150307574, ss2625598847, ss2705760897, ss2807959291, ss2985290047, ss2985912537, ss2994478901, ss3345648788, ss3654060783, ss3662399914, ss3731048526, ss3761663507, ss3784679113, ss3790142242, ss3795017402, ss3828481033, ss3837676537, ss3858667655, ss3904841588, ss5165126995, ss5348239210, ss5507470159, ss5634778407, ss5843838028, ss5963171123	NC_000004.11:38411451:T:C	NC_000004.12:38409830:T:C	(self)
27135591, 146213446, 10289715, 32864393, 447312550, 10341567524, ss2262130989, ss3024868396, ss3647700287, ss3711824234, ss3804795090, ss3843111653, ss3953911714, ss4609934994, ss5258779216, ss5457608002, ss5539609656, ss5699027289, ss5804948953, ss5854174532, ss5862992101	NC_000004.12:38409830:T:C	NC_000004.12:38409830:T:C	(self)
ss10170881, ss11678463	NT_016297.14:5560094:T:C	NC_000004.12:38409830:T:C	(self)
ss19563968, ss22100812	NT_016297.15:5560094:T:C	NC_000004.12:38409830:T:C	(self)
ss5736181, ss42149107, ss66037656, ss75928083, ss82018941, ss105820641, ss133358967, ss139547261, ss157115780, ss169240791	NT_016297.16:5570813:T:C	NC_000004.12:38409830:T:C	(self)
12018982, ss3904841588	NC_000004.11:38411451:T:G	NC_000004.12:38409830: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 rs4321645

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

rs4321645