Name: rs12186174
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.

rs12186174

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:162490698 (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: G>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.424995 (112492/264690, TOPMED)
A=0.417902 (58482/139942, GnomAD)
G=0.42607 (12040/28258, 14KJPN) (+ 16 more)
G=0.42715 (7159/16760, 8.3KJPN)
A=0.29573 (3502/11842, ALFA)
A=0.4706 (3014/6404, 1000G_30x)
A=0.4637 (2322/5008, 1000G)
A=0.4362 (1954/4480, Estonian)
A=0.4167 (1606/3854, ALSPAC)
A=0.4204 (1559/3708, TWINSUK)
G=0.3679 (1078/2930, KOREAN)
G=0.3493 (640/1832, Korea1K)
A=0.385 (384/998, GoNL)
A=0.340 (204/600, NorthernSweden)
G=0.348 (142/408, SGDP_PRJ)
A=0.255 (55/216, Qatari)
G=0.443 (93/210, Vietnamese)
G=0.31 (15/48, Siberian)
G=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	11842	G=0.70427	A=0.29573, T=0.00000
European	Sub	9732	G=0.6783	A=0.3217, T=0.0000
African	Sub	1424	G=0.8111	A=0.1889, T=0.0000
African Others	Sub	60	G=0.78	A=0.22, T=0.00
African American	Sub	1364	G=0.8123	A=0.1877, T=0.0000
Asian	Sub	14	G=1.00	A=0.00, T=0.00
East Asian	Sub	8	G=1.0	A=0.0, T=0.0
Other Asian	Sub	6	G=1.0	A=0.0, T=0.0
Latin American 1	Sub	58	G=1.00	A=0.00, T=0.00
Latin American 2	Sub	164	G=1.000	A=0.000, T=0.000
South Asian	Sub	36	G=1.00	A=0.00, T=0.00
Other	Sub	414	G=0.754	A=0.246, T=0.000

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	G=0.575005	A=0.424995
gnomAD - Genomes	Global	Study-wide	139942	G=0.582098	A=0.417902
gnomAD - Genomes	European	Sub	75806	G=0.59118	A=0.40882
gnomAD - Genomes	African	Sub	41916	G=0.58648	A=0.41352
gnomAD - Genomes	American	Sub	13630	G=0.55334	A=0.44666
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	G=0.6344	A=0.3656
gnomAD - Genomes	East Asian	Sub	3120	G=0.3881	A=0.6119
gnomAD - Genomes	Other	Sub	2152	G=0.5595	A=0.4405
14KJPN	JAPANESE	Study-wide	28258	G=0.42607	A=0.57393
8.3KJPN	JAPANESE	Study-wide	16760	G=0.42715	A=0.57285
Allele Frequency Aggregator	Total	Global	11842	G=0.70427	A=0.29573, T=0.00000
Allele Frequency Aggregator	European	Sub	9732	G=0.6783	A=0.3217, T=0.0000
Allele Frequency Aggregator	African	Sub	1424	G=0.8111	A=0.1889, T=0.0000
Allele Frequency Aggregator	Other	Sub	414	G=0.754	A=0.246, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	164	G=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	58	G=1.00	A=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	36	G=1.00	A=0.00, T=0.00
Allele Frequency Aggregator	Asian	Sub	14	G=1.00	A=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	G=0.5294	A=0.4706
1000Genomes_30x	African	Sub	1786	G=0.5890	A=0.4110
1000Genomes_30x	Europe	Sub	1266	G=0.5774	A=0.4226
1000Genomes_30x	South Asian	Sub	1202	G=0.5607	A=0.4393
1000Genomes_30x	East Asian	Sub	1170	G=0.4137	A=0.5863
1000Genomes_30x	American	Sub	980	G=0.458	A=0.542
1000Genomes	Global	Study-wide	5008	G=0.5363	A=0.4637
1000Genomes	African	Sub	1322	G=0.5915	A=0.4085
1000Genomes	East Asian	Sub	1008	G=0.4206	A=0.5794
1000Genomes	Europe	Sub	1006	G=0.5845	A=0.4155
1000Genomes	South Asian	Sub	978	G=0.576	A=0.424
1000Genomes	American	Sub	694	G=0.474	A=0.526
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.5638	A=0.4362
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.5833	A=0.4167
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.5796	A=0.4204
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.3679	A=0.6321, C=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	G=0.3493	A=0.6507
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.615	A=0.385
Northern Sweden	ACPOP	Study-wide	600	G=0.660	A=0.340
SGDP_PRJ	Global	Study-wide	408	G=0.348	A=0.652
Qatari	Global	Study-wide	216	G=0.745	A=0.255
A Vietnamese Genetic Variation Database	Global	Study-wide	210	G=0.443	A=0.557
Siberian	Global	Study-wide	48	G=0.31	A=0.69
The Danish reference pan genome	Danish	Study-wide	40	G=0.47	A=0.53

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.162490698G>A
GRCh38.p14 chr 4	NC_000004.12:g.162490698G>C
GRCh38.p14 chr 4	NC_000004.12:g.162490698G>T
GRCh37.p13 chr 4	NC_000004.11:g.163411850G>A
GRCh37.p13 chr 4	NC_000004.11:g.163411850G>C
GRCh37.p13 chr 4	NC_000004.11:g.163411850G>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	G=	A	C	T
GRCh38.p14 chr 4	NC_000004.12:g.162490698=	NC_000004.12:g.162490698G>A	NC_000004.12:g.162490698G>C	NC_000004.12:g.162490698G>T
GRCh37.p13 chr 4	NC_000004.11:g.163411850=	NC_000004.11:g.163411850G>A	NC_000004.11:g.163411850G>C	NC_000004.11:g.163411850G>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#.

64 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18362744	Feb 28, 2004 (120)
2	HGSV	ss83305635	Dec 14, 2007 (130)
3	BCMHGSC_JDW	ss92861648	Mar 24, 2008 (129)
4	BGI	ss105880818	Feb 04, 2009 (130)
5	ILLUMINA-UK	ss117270034	Dec 01, 2009 (131)
6	ENSEMBL	ss142469694	Dec 01, 2009 (131)
7	GMI	ss154522725	Dec 01, 2009 (131)
8	COMPLETE_GENOMICS	ss162734456	Jul 04, 2010 (132)
9	COMPLETE_GENOMICS	ss164913858	Jul 04, 2010 (132)
10	COMPLETE_GENOMICS	ss167373973	Jul 04, 2010 (132)
11	BUSHMAN	ss199453346	Jul 04, 2010 (132)
12	1000GENOMES	ss221335965	Jul 14, 2010 (132)
13	1000GENOMES	ss232690608	Jul 14, 2010 (132)
14	1000GENOMES	ss239918179	Jul 15, 2010 (132)
15	BL	ss253690786	May 09, 2011 (134)
16	GMI	ss278023865	May 04, 2012 (137)
17	GMI	ss285049415	Apr 25, 2013 (138)
18	PJP	ss293241948	May 09, 2011 (134)
19	TISHKOFF	ss557997997	Apr 25, 2013 (138)
20	SSMP	ss651821614	Apr 25, 2013 (138)
21	EVA-GONL	ss980921362	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1072140777	Aug 21, 2014 (142)
23	1000GENOMES	ss1312729980	Aug 21, 2014 (142)
24	DDI	ss1430127425	Apr 01, 2015 (144)
25	EVA_GENOME_DK	ss1580872739	Apr 01, 2015 (144)
26	EVA_DECODE	ss1590437691	Apr 01, 2015 (144)
27	EVA_UK10K_ALSPAC	ss1611655761	Apr 01, 2015 (144)
28	EVA_UK10K_TWINSUK	ss1654649794	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1802511834	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1924162008	Feb 12, 2016 (147)
31	GENOMED	ss1969928401	Jul 19, 2016 (147)
32	JJLAB	ss2022669646	Sep 14, 2016 (149)
33	USC_VALOUEV	ss2150801603	Dec 20, 2016 (150)
34	HUMAN_LONGEVITY	ss2269031079	Dec 20, 2016 (150)
35	SYSTEMSBIOZJU	ss2625829377	Nov 08, 2017 (151)
36	GRF	ss2706303278	Nov 08, 2017 (151)
37	GNOMAD	ss2817879813	Nov 08, 2017 (151)
38	SWEGEN	ss2995925065	Nov 08, 2017 (151)
39	BIOINF_KMB_FNS_UNIBA	ss3025113461	Nov 08, 2017 (151)
40	CSHL	ss3346069798	Nov 08, 2017 (151)
41	EGCUT_WGS	ss3663839120	Jul 13, 2019 (153)
42	EVA_DECODE	ss3713506848	Jul 13, 2019 (153)
43	ACPOP	ss3731808010	Jul 13, 2019 (153)
44	EVA	ss3762689687	Jul 13, 2019 (153)
45	KHV_HUMAN_GENOMES	ss3805849649	Jul 13, 2019 (153)
46	EVA	ss3828926296	Apr 26, 2020 (154)
47	EVA	ss3837914557	Apr 26, 2020 (154)
48	EVA	ss3843355485	Apr 26, 2020 (154)
49	SGDP_PRJ	ss3860535809	Apr 26, 2020 (154)
50	KRGDB	ss3906897591	Apr 26, 2020 (154)
51	KOGIC	ss3955547825	Apr 26, 2020 (154)
52	TOPMED	ss4639994274	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5169038100	Apr 26, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5261822200	Oct 13, 2022 (156)
55	EVA	ss5353760787	Oct 13, 2022 (156)
56	HUGCELL_USP	ss5460293530	Oct 13, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5544351572	Oct 13, 2022 (156)
58	SANFORD_IMAGENETICS	ss5636561502	Oct 13, 2022 (156)
59	TOMMO_GENOMICS	ss5704315027	Oct 13, 2022 (156)
60	YY_MCH	ss5805737110	Oct 13, 2022 (156)
61	EVA	ss5845029744	Oct 13, 2022 (156)
62	EVA	ss5854541252	Oct 13, 2022 (156)
63	EVA	ss5866417920	Oct 13, 2022 (156)
64	EVA	ss5964970501	Oct 13, 2022 (156)
65	1000Genomes	NC_000004.11 - 163411850	Oct 12, 2018 (152)
66	1000Genomes_30x	NC_000004.12 - 162490698	Oct 13, 2022 (156)
67	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 163411850	Oct 12, 2018 (152)
68	Genetic variation in the Estonian population	NC_000004.11 - 163411850	Oct 12, 2018 (152)
69	The Danish reference pan genome	NC_000004.11 - 163411850	Apr 26, 2020 (154)
70	gnomAD - Genomes	NC_000004.12 - 162490698	Apr 26, 2021 (155)
71	Genome of the Netherlands Release 5	NC_000004.11 - 163411850	Apr 26, 2020 (154)
72	KOREAN population from KRGDB	NC_000004.11 - 163411850	Apr 26, 2020 (154)
73	Korean Genome Project	NC_000004.12 - 162490698	Apr 26, 2020 (154)
74	Northern Sweden	NC_000004.11 - 163411850	Jul 13, 2019 (153)
75	Qatari	NC_000004.11 - 163411850	Apr 26, 2020 (154)
76	SGDP_PRJ	NC_000004.11 - 163411850	Apr 26, 2020 (154)
77	Siberian	NC_000004.11 - 163411850	Apr 26, 2020 (154)
78	8.3KJPN	NC_000004.11 - 163411850	Apr 26, 2021 (155)
79	14KJPN	NC_000004.12 - 162490698	Oct 13, 2022 (156)
80	TopMed	NC_000004.12 - 162490698	Apr 26, 2021 (155)
81	UK 10K study - Twins	NC_000004.11 - 163411850	Oct 12, 2018 (152)
82	A Vietnamese Genetic Variation Database	NC_000004.11 - 163411850	Jul 13, 2019 (153)
83	ALFA	NC_000004.12 - 162490698	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)
rs57467784	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83305635	NC_000004.9:163769454:G:A	NC_000004.12:162490697:G:A	(self)
ss92861648, ss117270034, ss162734456, ss164913858, ss167373973, ss199453346, ss253690786, ss278023865, ss285049415, ss293241948, ss1590437691	NC_000004.10:163631299:G:A	NC_000004.12:162490697:G:A	(self)
24239929, 13483441, 9577368, 7037678, 5973182, 14074985, 5092875, 6203938, 12552789, 3317957, 27007407, 13483441, 2977141, ss221335965, ss232690608, ss239918179, ss557997997, ss651821614, ss980921362, ss1072140777, ss1312729980, ss1430127425, ss1580872739, ss1611655761, ss1654649794, ss1802511834, ss1924162008, ss1969928401, ss2022669646, ss2150801603, ss2625829377, ss2706303278, ss2817879813, ss2995925065, ss3346069798, ss3663839120, ss3731808010, ss3762689687, ss3828926296, ss3837914557, ss3860535809, ss3906897591, ss5169038100, ss5353760787, ss5636561502, ss5845029744, ss5964970501	NC_000004.11:163411849:G:A	NC_000004.12:162490697:G:A	(self)
31877507, 171673211, 11925826, 38152131, 477371830, 15716579693, ss2269031079, ss3025113461, ss3713506848, ss3805849649, ss3843355485, ss3955547825, ss4639994274, ss5261822200, ss5460293530, ss5544351572, ss5704315027, ss5805737110, ss5854541252, ss5866417920	NC_000004.12:162490697:G:A	NC_000004.12:162490697:G:A	(self)
ss105880818, ss142469694, ss154522725	NT_016354.19:87959570:G:A	NC_000004.12:162490697:G:A	(self)
ss18362744	NT_016606.16:24959905:G:A	NC_000004.12:162490697:G:A	(self)
14074985, ss3906897591	NC_000004.11:163411849:G:C	NC_000004.12:162490697:G:C	(self)
15716579693	NC_000004.12:162490697:G:T	NC_000004.12:162490697:G: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 rs12186174

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

rs12186174