Name: rs314076
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.

rs314076

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:188374533 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.137504 (36396/264690, TOPMED)
T=0.131918 (18382/139344, GnomAD)
T=0.10742 (3616/33662, ALFA) (+ 16 more)
T=0.11731 (3315/28258, 14KJPN)
T=0.11700 (1961/16760, 8.3KJPN)
T=0.1594 (1021/6404, 1000G_30x)
T=0.1550 (776/5008, 1000G)
T=0.0688 (308/4480, Estonian)
T=0.0771 (297/3854, ALSPAC)
T=0.0755 (280/3708, TWINSUK)
T=0.1096 (321/2930, KOREAN)
T=0.1691 (320/1892, HapMap)
T=0.0907 (103/1136, Daghestan)
T=0.066 (66/998, GoNL)
T=0.072 (43/600, NorthernSweden)
T=0.087 (48/554, SGDP_PRJ)
T=0.130 (28/216, Qatari)
T=0.05 (3/56, Siberian)
T=0.10 (4/40, 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	33662	T=0.10742	C=0.89258
European	Sub	24826	T=0.06735	C=0.93265
African	Sub	5804	T=0.2896	C=0.7104
African Others	Sub	208	T=0.293	C=0.707
African American	Sub	5596	T=0.2895	C=0.7105
Asian	Sub	130	T=0.069	C=0.931
East Asian	Sub	102	T=0.088	C=0.912
Other Asian	Sub	28	T=0.00	C=1.00
Latin American 1	Sub	168	T=0.113	C=0.887
Latin American 2	Sub	700	T=0.061	C=0.939
South Asian	Sub	116	T=0.172	C=0.828
Other	Sub	1918	T=0.0897	C=0.9103

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=0.137504	C=0.862496
gnomAD - Genomes	Global	Study-wide	139344	T=0.131918	C=0.868082
gnomAD - Genomes	European	Sub	75698	T=0.06795	C=0.93205
gnomAD - Genomes	African	Sub	41446	T=0.27829	C=0.72171
gnomAD - Genomes	American	Sub	13606	T=0.07680	C=0.92320
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.0576	C=0.9424
gnomAD - Genomes	East Asian	Sub	3128	T=0.0684	C=0.9316
gnomAD - Genomes	Other	Sub	2148	T=0.1182	C=0.8818
Allele Frequency Aggregator	Total	Global	33662	T=0.10742	C=0.89258
Allele Frequency Aggregator	European	Sub	24826	T=0.06735	C=0.93265
Allele Frequency Aggregator	African	Sub	5804	T=0.2896	C=0.7104
Allele Frequency Aggregator	Other	Sub	1918	T=0.0897	C=0.9103
Allele Frequency Aggregator	Latin American 2	Sub	700	T=0.061	C=0.939
Allele Frequency Aggregator	Latin American 1	Sub	168	T=0.113	C=0.887
Allele Frequency Aggregator	Asian	Sub	130	T=0.069	C=0.931
Allele Frequency Aggregator	South Asian	Sub	116	T=0.172	C=0.828
14KJPN	JAPANESE	Study-wide	28258	T=0.11731	C=0.88269
8.3KJPN	JAPANESE	Study-wide	16760	T=0.11700	C=0.88300
1000Genomes_30x	Global	Study-wide	6404	T=0.1594	C=0.8406
1000Genomes_30x	African	Sub	1786	T=0.3175	C=0.6825
1000Genomes_30x	Europe	Sub	1266	T=0.0687	C=0.9313
1000Genomes_30x	South Asian	Sub	1202	T=0.1231	C=0.8769
1000Genomes_30x	East Asian	Sub	1170	T=0.0966	C=0.9034
1000Genomes_30x	American	Sub	980	T=0.108	C=0.892
1000Genomes	Global	Study-wide	5008	T=0.1550	C=0.8450
1000Genomes	African	Sub	1322	T=0.3116	C=0.6884
1000Genomes	East Asian	Sub	1008	T=0.0962	C=0.9038
1000Genomes	Europe	Sub	1006	T=0.0646	C=0.9354
1000Genomes	South Asian	Sub	978	T=0.130	C=0.870
1000Genomes	American	Sub	694	T=0.108	C=0.892
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.0688	C=0.9313
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.0771	C=0.9229
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.0755	C=0.9245
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.1096	C=0.8904
HapMap	Global	Study-wide	1892	T=0.1691	C=0.8309
HapMap	American	Sub	770	T=0.103	C=0.897
HapMap	African	Sub	692	T=0.295	C=0.705
HapMap	Asian	Sub	254	T=0.110	C=0.890
HapMap	Europe	Sub	176	T=0.051	C=0.949
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.0907	C=0.9093
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.100	C=0.900
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.076	C=0.924
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.057	C=0.943
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.074	C=0.926
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.12	C=0.88
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.06	C=0.94
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.066	C=0.934
Northern Sweden	ACPOP	Study-wide	600	T=0.072	C=0.928
SGDP_PRJ	Global	Study-wide	554	T=0.087	C=0.913
Qatari	Global	Study-wide	216	T=0.130	C=0.870
Siberian	Global	Study-wide	56	T=0.05	C=0.95
The Danish reference pan genome	Danish	Study-wide	40	T=0.10	C=0.90

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.188374533T>C
GRCh37.p13 chr 4	NC_000004.11:g.189295687T>C
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.33111T>C

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=	C
GRCh38.p14 chr 4	NC_000004.12:g.188374533=	NC_000004.12:g.188374533T>C
GRCh37.p13 chr 4	NC_000004.11:g.189295687=	NC_000004.11:g.189295687T>C
GRCh38.p14 chr 4 alt locus HSCHR4_5_CTG12	NT_187545.1:g.33111=	NT_187545.1:g.33111T>C

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#.

102 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss402935	Jul 12, 2000 (79)
2	SC_JCM	ss515111	Jul 16, 2000 (80)
3	KWOK	ss929898	Oct 04, 2000 (86)
4	KWOK	ss2018813	Oct 18, 2000 (87)
5	CSHL-HAPMAP	ss17020246	Feb 27, 2004 (120)
6	CSHL-HAPMAP	ss20207093	Feb 27, 2004 (120)
7	SSAHASNP	ss22036448	Apr 05, 2004 (121)
8	ABI	ss42195093	Mar 14, 2006 (126)
9	PERLEGEN	ss68923181	May 16, 2007 (127)
10	ILLUMINA	ss75035492	Dec 06, 2007 (129)
11	HGSV	ss78120630	Dec 06, 2007 (129)
12	HGSV	ss81258165	Dec 14, 2007 (130)
13	HGSV	ss84559576	Dec 14, 2007 (130)
14	HGSV	ss84645090	Dec 14, 2007 (130)
15	BCMHGSC_JDW	ss92940421	Mar 24, 2008 (129)
16	HUMANGENOME_JCVI	ss98901523	Feb 04, 2009 (130)
17	BGI	ss105897958	Feb 04, 2009 (130)
18	1000GENOMES	ss108710783	Jan 23, 2009 (130)
19	1000GENOMES	ss111238624	Jan 25, 2009 (130)
20	ILLUMINA-UK	ss117347080	Feb 14, 2009 (130)
21	KRIBB_YJKIM	ss119349279	Dec 01, 2009 (131)
22	ENSEMBL	ss134788972	Dec 01, 2009 (131)
23	ENSEMBL	ss142702377	Dec 01, 2009 (131)
24	GMI	ss154819820	Dec 01, 2009 (131)
25	COMPLETE_GENOMICS	ss162934935	Jul 04, 2010 (132)
26	COMPLETE_GENOMICS	ss165426313	Jul 04, 2010 (132)
27	COMPLETE_GENOMICS	ss167528258	Jul 04, 2010 (132)
28	ILLUMINA	ss173570199	Jul 04, 2010 (132)
29	BUSHMAN	ss199709842	Jul 04, 2010 (132)
30	BCM-HGSC-SUB	ss206286183	Jul 04, 2010 (132)
31	1000GENOMES	ss221450175	Jul 14, 2010 (132)
32	1000GENOMES	ss232777377	Jul 14, 2010 (132)
33	1000GENOMES	ss239986601	Jul 15, 2010 (132)
34	BL	ss253848821	May 09, 2011 (134)
35	GMI	ss278110563	May 04, 2012 (137)
36	GMI	ss285091387	Apr 25, 2013 (138)
37	PJP	ss293285881	May 09, 2011 (134)
38	ILLUMINA	ss484340964	May 04, 2012 (137)
39	ILLUMINA	ss484781757	May 04, 2012 (137)
40	ILLUMINA	ss536523984	Sep 08, 2015 (146)
41	TISHKOFF	ss558129446	Apr 25, 2013 (138)
42	SSMP	ss651965126	Apr 25, 2013 (138)
43	ILLUMINA	ss780617171	Sep 08, 2015 (146)
44	ILLUMINA	ss782616730	Sep 08, 2015 (146)
45	ILLUMINA	ss836110687	Sep 08, 2015 (146)
46	EVA-GONL	ss981135919	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1072307870	Aug 21, 2014 (142)
48	1000GENOMES	ss1313500716	Aug 21, 2014 (142)
49	HAMMER_LAB	ss1397401796	Sep 08, 2015 (146)
50	DDI	ss1430200951	Apr 01, 2015 (144)
51	EVA_GENOME_DK	ss1580964512	Apr 01, 2015 (144)
52	EVA_DECODE	ss1590655488	Apr 01, 2015 (144)
53	EVA_UK10K_ALSPAC	ss1612066466	Apr 01, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1655060499	Apr 01, 2015 (144)
55	EVA_SVP	ss1712735525	Apr 01, 2015 (144)
56	HAMMER_LAB	ss1802841703	Sep 08, 2015 (146)
57	WEILL_CORNELL_DGM	ss1924384253	Feb 12, 2016 (147)
58	GENOMED	ss1969983793	Jul 19, 2016 (147)
59	JJLAB	ss2022787971	Sep 14, 2016 (149)
60	USC_VALOUEV	ss2150923240	Dec 20, 2016 (150)
61	HUMAN_LONGEVITY	ss2270604001	Dec 20, 2016 (150)
62	SYSTEMSBIOZJU	ss2625888024	Nov 08, 2017 (151)
63	ILLUMINA	ss2634230542	Nov 08, 2017 (151)
64	GRF	ss2706434045	Nov 08, 2017 (151)
65	GNOMAD	ss2820021001	Nov 08, 2017 (151)
66	SWEGEN	ss2996248843	Nov 08, 2017 (151)
67	BIOINF_KMB_FNS_UNIBA	ss3025176301	Nov 08, 2017 (151)
68	CSHL	ss3346174259	Nov 08, 2017 (151)
69	ILLUMINA	ss3629153925	Oct 12, 2018 (152)
70	ILLUMINA	ss3632160448	Oct 12, 2018 (152)
71	ILLUMINA	ss3638532648	Oct 12, 2018 (152)
72	ILLUMINA	ss3642390851	Oct 12, 2018 (152)
73	ILLUMINA	ss3643480233	Oct 12, 2018 (152)
74	URBANLAB	ss3647955888	Oct 12, 2018 (152)
75	EGCUT_WGS	ss3664169845	Jul 13, 2019 (153)
76	EVA_DECODE	ss3713900332	Jul 13, 2019 (153)
77	ACPOP	ss3731991302	Jul 13, 2019 (153)
78	EVA	ss3762933249	Jul 13, 2019 (153)
79	PACBIO	ss3784989023	Jul 13, 2019 (153)
80	PACBIO	ss3790409501	Jul 13, 2019 (153)
81	PACBIO	ss3795285564	Jul 13, 2019 (153)
82	KHV_HUMAN_GENOMES	ss3806102161	Jul 13, 2019 (153)
83	EVA	ss3829037260	Apr 26, 2020 (154)
84	EVA	ss3837976492	Apr 26, 2020 (154)
85	EVA	ss3843418992	Apr 26, 2020 (154)
86	SGDP_PRJ	ss3860962206	Apr 26, 2020 (154)
87	KRGDB	ss3907352929	Apr 26, 2020 (154)
88	EVA	ss4017187730	Apr 26, 2021 (155)
89	VINODS	ss4023179421	Apr 26, 2021 (155)
90	TOPMED	ss4646402356	Apr 26, 2021 (155)
91	TOMMO_GENOMICS	ss5169902361	Apr 26, 2021 (155)
92	1000G_HIGH_COVERAGE	ss5262509527	Oct 13, 2022 (156)
93	EVA	ss5315022869	Oct 13, 2022 (156)
94	HUGCELL_USP	ss5460908215	Oct 13, 2022 (156)
95	1000G_HIGH_COVERAGE	ss5545388930	Oct 13, 2022 (156)
96	SANFORD_IMAGENETICS	ss5636966553	Oct 13, 2022 (156)
97	TOMMO_GENOMICS	ss5705418010	Oct 13, 2022 (156)
98	YY_MCH	ss5805918562	Oct 13, 2022 (156)
99	EVA	ss5845309451	Oct 13, 2022 (156)
100	EVA	ss5854633522	Oct 13, 2022 (156)
101	EVA	ss5867190190	Oct 13, 2022 (156)
102	EVA	ss5965384615	Oct 13, 2022 (156)
103	1000Genomes	NC_000004.11 - 189295687	Oct 12, 2018 (152)
104	1000Genomes_30x	NC_000004.12 - 188374533	Oct 13, 2022 (156)
105	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 189295687	Oct 12, 2018 (152)
106	Genome-wide autozygosity in Daghestan	NC_000004.10 - 189532681	Apr 26, 2020 (154)
107	Genetic variation in the Estonian population	NC_000004.11 - 189295687	Oct 12, 2018 (152)
108	The Danish reference pan genome	NC_000004.11 - 189295687	Apr 26, 2020 (154)
109	gnomAD - Genomes	NC_000004.12 - 188374533	Apr 26, 2021 (155)
110	Genome of the Netherlands Release 5	NC_000004.11 - 189295687	Apr 26, 2020 (154)
111	HapMap	NC_000004.12 - 188374533	Apr 26, 2020 (154)
112	KOREAN population from KRGDB	NC_000004.11 - 189295687	Apr 26, 2020 (154)
113	Northern Sweden	NC_000004.11 - 189295687	Jul 13, 2019 (153)
114	Qatari	NC_000004.11 - 189295687	Apr 26, 2020 (154)
115	SGDP_PRJ	NC_000004.11 - 189295687	Apr 26, 2020 (154)
116	Siberian	NC_000004.11 - 189295687	Apr 26, 2020 (154)
117	8.3KJPN	NC_000004.11 - 189295687	Apr 26, 2021 (155)
118	14KJPN	NC_000004.12 - 188374533	Oct 13, 2022 (156)
119	TopMed	NC_000004.12 - 188374533	Apr 26, 2021 (155)
120	UK 10K study - Twins	NC_000004.11 - 189295687	Oct 12, 2018 (152)
121	ALFA	NC_000004.12 - 188374533	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)
rs58164131	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78120630, ss81258165, ss84559576, ss84645090	NC_000004.9:189670835:T:C	NC_000004.12:188374532:T:C	(self)
376966, ss92940421, ss108710783, ss111238624, ss117347080, ss162934935, ss165426313, ss167528258, ss199709842, ss206286183, ss253848821, ss278110563, ss285091387, ss293285881, ss484781757, ss1397401796, ss1590655488, ss1712735525, ss3643480233	NC_000004.10:189532680:T:C	NC_000004.12:188374532:T:C	(self)
25041311, 13937087, 9908093, 7129451, 6181859, 14530323, 5276167, 6426183, 12979186, 3439594, 27871668, 13937087, ss221450175, ss232777377, ss239986601, ss484340964, ss536523984, ss558129446, ss651965126, ss780617171, ss782616730, ss836110687, ss981135919, ss1072307870, ss1313500716, ss1430200951, ss1580964512, ss1612066466, ss1655060499, ss1802841703, ss1924384253, ss1969983793, ss2022787971, ss2150923240, ss2625888024, ss2634230542, ss2706434045, ss2820021001, ss2996248843, ss3346174259, ss3629153925, ss3632160448, ss3638532648, ss3642390851, ss3664169845, ss3731991302, ss3762933249, ss3784989023, ss3790409501, ss3795285564, ss3829037260, ss3837976492, ss3860962206, ss3907352929, ss4017187730, ss5169902361, ss5315022869, ss5636966553, ss5845309451, ss5965384615	NC_000004.11:189295686:T:C	NC_000004.12:188374532:T:C	(self)
32914865, 177113067, 2786231, 39255114, 483779912, 5740157276, ss2270604001, ss3025176301, ss3647955888, ss3713900332, ss3806102161, ss3843418992, ss4646402356, ss5262509527, ss5460908215, ss5545388930, ss5705418010, ss5805918562, ss5854633522, ss5867190190	NC_000004.12:188374532:T:C	NC_000004.12:188374532:T:C	(self)
ss402935, ss515111, ss929898, ss2018813, ss42195093, ss68923181, ss75035492, ss98901523, ss105897958, ss119349279, ss134788972, ss142702377, ss154819820, ss173570199	NT_016354.19:113843407:T:C	NC_000004.12:188374532:T:C	(self)
ss17020246, ss20207093, ss22036448	NT_022792.16:21707207:T:C	NC_000004.12:188374532:T:C	(self)
ss4023179421	NT_187545.1:33110:T:C	NC_000004.12:188374532:T:C	(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 rs314076

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
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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

rs314076