Name: rs8175936
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.

rs8175936

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:38032513 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.375107 (99287/264690, TOPMED)
G=0.32249 (3639/11284, ALFA)
G=0.2775 (1777/6404, 1000G_30x) (+ 13 more)
G=0.2782 (1393/5008, 1000G)
C=0.4703 (2107/4480, Estonian)
C=0.4878 (1880/3854, ALSPAC)
C=0.4976 (1845/3708, TWINSUK)
G=0.0724 (212/2930, KOREAN)
G=0.498 (497/998, GoNL)
C=0.495 (297/600, NorthernSweden)
C=0.372 (93/250, SGDP_PRJ)
G=0.370 (80/216, Qatari)
G=0.098 (21/214, Vietnamese)
C=0.50 (20/40, GENOME_DK)
G=0.50 (20/40, GENOME_DK)
C=0.46 (12/26, 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	11284	C=0.67751	A=0.00000, G=0.32249, T=0.00000
European	Sub	8516	C=0.5874	A=0.0000, G=0.4126, T=0.0000
African	Sub	1828	C=0.9814	A=0.0000, G=0.0186, T=0.0000
African Others	Sub	88	C=0.98	A=0.00, G=0.02, T=0.00
African American	Sub	1740	C=0.9816	A=0.0000, G=0.0184, T=0.0000
Asian	Sub	92	C=1.00	A=0.00, G=0.00, T=0.00
East Asian	Sub	72	C=1.00	A=0.00, G=0.00, T=0.00
Other Asian	Sub	20	C=1.00	A=0.00, G=0.00, T=0.00
Latin American 1	Sub	60	C=1.00	A=0.00, G=0.00, T=0.00
Latin American 2	Sub	338	C=1.000	A=0.000, G=0.000, T=0.000
South Asian	Sub	42	C=1.00	A=0.00, G=0.00, T=0.00
Other	Sub	408	C=0.777	A=0.000, G=0.223, 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	C=0.624893	G=0.375107
Allele Frequency Aggregator	Total	Global	11284	C=0.67751	A=0.00000, G=0.32249, T=0.00000
Allele Frequency Aggregator	European	Sub	8516	C=0.5874	A=0.0000, G=0.4126, T=0.0000
Allele Frequency Aggregator	African	Sub	1828	C=0.9814	A=0.0000, G=0.0186, T=0.0000
Allele Frequency Aggregator	Other	Sub	408	C=0.777	A=0.000, G=0.223, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	338	C=1.000	A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	92	C=1.00	A=0.00, G=0.00, T=0.00
Allele Frequency Aggregator	Latin American 1	Sub	60	C=1.00	A=0.00, G=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	42	C=1.00	A=0.00, G=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.7225	G=0.2775
1000Genomes_30x	African	Sub	1786	C=0.7945	G=0.2055
1000Genomes_30x	Europe	Sub	1266	C=0.5063	G=0.4937
1000Genomes_30x	South Asian	Sub	1202	C=0.6897	G=0.3103
1000Genomes_30x	East Asian	Sub	1170	C=0.9128	G=0.0872
1000Genomes_30x	American	Sub	980	C=0.684	G=0.316
1000Genomes	Global	Study-wide	5008	C=0.7218	G=0.2782
1000Genomes	African	Sub	1322	C=0.7965	G=0.2035
1000Genomes	East Asian	Sub	1008	C=0.9087	G=0.0913
1000Genomes	Europe	Sub	1006	C=0.5060	G=0.4940
1000Genomes	South Asian	Sub	978	C=0.677	G=0.323
1000Genomes	American	Sub	694	C=0.684	G=0.316
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.4703	G=0.5297
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.4878	G=0.5122
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.4976	G=0.5024
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.9270	G=0.0724, T=0.0007
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.502	G=0.498
Northern Sweden	ACPOP	Study-wide	600	C=0.495	G=0.505
SGDP_PRJ	Global	Study-wide	250	C=0.372	G=0.628
Qatari	Global	Study-wide	216	C=0.630	G=0.370
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.902	G=0.098
The Danish reference pan genome	Danish	Study-wide	40	C=0.50	G=0.50
Siberian	Global	Study-wide	26	C=0.46	G=0.54

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 12	NC_000012.12:g.38032513C>A
GRCh38.p14 chr 12	NC_000012.12:g.38032513C>G
GRCh38.p14 chr 12	NC_000012.12:g.38032513C>T
GRCh37.p13 chr 12	NC_000012.11:g.38426315C>A
GRCh37.p13 chr 12	NC_000012.11:g.38426315C>G
GRCh37.p13 chr 12	NC_000012.11:g.38426315C>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	G	T
GRCh38.p14 chr 12	NC_000012.12:g.38032513=	NC_000012.12:g.38032513C>A	NC_000012.12:g.38032513C>G	NC_000012.12:g.38032513C>T
GRCh37.p13 chr 12	NC_000012.11:g.38426315=	NC_000012.11:g.38426315C>A	NC_000012.11:g.38426315C>G	NC_000012.11:g.38426315C>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#.

66 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss12579943	Aug 26, 2003 (117)
2	WI_SSAHASNP	ss12582838	Aug 26, 2003 (117)
3	SC_SNP	ss15453754	Feb 28, 2004 (126)
4	SSAHASNP	ss35196946	May 24, 2005 (125)
5	BCMHGSC_JDW	ss89094389	Mar 24, 2008 (129)
6	COMPLETE_GENOMICS	ss168141610	Jul 04, 2010 (132)
7	BCM-HGSC-SUB	ss208347453	Jul 04, 2010 (132)
8	1000GENOMES	ss225703896	Jul 14, 2010 (132)
9	1000GENOMES	ss235899509	Jul 15, 2010 (132)
10	1000GENOMES	ss242463821	Jul 15, 2010 (132)
11	BL	ss255044197	May 09, 2011 (134)
12	GMI	ss281357228	May 04, 2012 (137)
13	PJP	ss291422274	May 09, 2011 (134)
14	TISHKOFF	ss563110228	Apr 25, 2013 (138)
15	SSMP	ss658654514	Apr 25, 2013 (138)
16	EVA-GONL	ss989434379	Aug 21, 2014 (142)
17	JMKIDD_LAB	ss1078390796	Aug 21, 2014 (142)
18	1000GENOMES	ss1344632801	Aug 21, 2014 (142)
19	DDI	ss1426904636	Apr 01, 2015 (144)
20	EVA_GENOME_DK	ss1576226617	Apr 01, 2015 (144)
21	EVA_DECODE	ss1599100446	Apr 01, 2015 (144)
22	EVA_DECODE	ss1599100447	Apr 01, 2015 (144)
23	EVA_UK10K_ALSPAC	ss1628393382	Apr 01, 2015 (144)
24	EVA_UK10K_TWINSUK	ss1671387415	Apr 01, 2015 (144)
25	HAMMER_LAB	ss1807203261	Sep 08, 2015 (146)
26	WEILL_CORNELL_DGM	ss1932798203	Feb 12, 2016 (147)
27	JJLAB	ss2027149728	Sep 14, 2016 (149)
28	USC_VALOUEV	ss2155482194	Dec 20, 2016 (150)
29	HUMAN_LONGEVITY	ss2189020923	Dec 20, 2016 (150)
30	GRF	ss2699819641	Nov 08, 2017 (151)
31	GNOMAD	ss2909403661	Nov 08, 2017 (151)
32	SWEGEN	ss3009526629	Nov 08, 2017 (151)
33	BIOINF_KMB_FNS_UNIBA	ss3027383609	Nov 08, 2017 (151)
34	CSHL	ss3350020426	Nov 08, 2017 (151)
35	URBANLAB	ss3649817080	Oct 12, 2018 (152)
36	EGCUT_WGS	ss3676806039	Jul 13, 2019 (153)
37	EVA_DECODE	ss3693483447	Jul 13, 2019 (153)
38	EVA_DECODE	ss3693483448	Jul 13, 2019 (153)
39	ACPOP	ss3738936617	Jul 13, 2019 (153)
40	EVA	ss3750363427	Jul 13, 2019 (153)
41	PACBIO	ss3787200332	Jul 13, 2019 (153)
42	PACBIO	ss3792306521	Jul 13, 2019 (153)
43	PACBIO	ss3797189268	Jul 13, 2019 (153)
44	KHV_HUMAN_GENOMES	ss3815690867	Jul 13, 2019 (153)
45	EVA	ss3833074873	Apr 26, 2020 (154)
46	EVA	ss3840106953	Apr 26, 2020 (154)
47	EVA	ss3845592693	Apr 26, 2020 (154)
48	SGDP_PRJ	ss3878074667	Apr 26, 2020 (154)
49	KRGDB	ss3926673732	Apr 26, 2020 (154)
50	KOGIC	ss3971737458	Apr 26, 2020 (154)
51	KOGIC	ss3971737459	Apr 26, 2020 (154)
52	TOPMED	ss4914919446	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5205881078	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5205881079	Apr 26, 2021 (155)
55	1000G_HIGH_COVERAGE	ss5290470091	Oct 16, 2022 (156)
56	EVA	ss5405037975	Oct 16, 2022 (156)
57	EVA	ss5510662949	Oct 16, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5587790040	Oct 16, 2022 (156)
59	SANFORD_IMAGENETICS	ss5652961085	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5755542704	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5755542705	Oct 16, 2022 (156)
62	YY_MCH	ss5813213484	Oct 16, 2022 (156)
63	EVA	ss5837839492	Oct 16, 2022 (156)
64	EVA	ss5850339869	Oct 16, 2022 (156)
65	EVA	ss5904010479	Oct 16, 2022 (156)
66	EVA	ss5944316753	Oct 16, 2022 (156)
67	1000Genomes	NC_000012.11 - 38426315	Oct 12, 2018 (152)
68	1000Genomes_30x	NC_000012.12 - 38032513	Oct 16, 2022 (156)
69	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 38426315	Oct 12, 2018 (152)
70	Genetic variation in the Estonian population	NC_000012.11 - 38426315	Oct 12, 2018 (152)
71	The Danish reference pan genome	NC_000012.11 - 38426315	Apr 26, 2020 (154)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 404535556 (NC_000012.12:38032512:C:A 1/139996) Row 404535557 (NC_000012.12:38032512:C:G 55167/139952) Row 404535558 (NC_000012.12:38032512:C:T 3/139996)	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 404535556 (NC_000012.12:38032512:C:A 1/139996) Row 404535557 (NC_000012.12:38032512:C:G 55167/139952) Row 404535558 (NC_000012.12:38032512:C:T 3/139996)	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 404535556 (NC_000012.12:38032512:C:A 1/139996) Row 404535557 (NC_000012.12:38032512:C:G 55167/139952) Row 404535558 (NC_000012.12:38032512:C:T 3/139996)	-	Apr 26, 2021 (155)
75	Genome of the Netherlands Release 5	NC_000012.11 - 38426315	Apr 26, 2020 (154)
76	KOREAN population from KRGDB	NC_000012.11 - 38426315	Apr 26, 2020 (154)
77	Korean Genome Project Submission ignored due to conflicting rows: Row 28115459 (NC_000012.12:38032512:C:G 140/1832) Row 28115460 (NC_000012.12:38032512:C:T 6/1832)	-	Apr 26, 2020 (154)
78	Korean Genome Project Submission ignored due to conflicting rows: Row 28115459 (NC_000012.12:38032512:C:G 140/1832) Row 28115460 (NC_000012.12:38032512:C:T 6/1832)	-	Apr 26, 2020 (154)
79	Northern Sweden	NC_000012.11 - 38426315	Jul 13, 2019 (153)
80	Qatari	NC_000012.11 - 38426315	Apr 26, 2020 (154)
81	SGDP_PRJ	NC_000012.11 - 38426315	Apr 26, 2020 (154)
82	Siberian	NC_000012.11 - 38426315	Apr 26, 2020 (154)
83	8.3KJPN Submission ignored due to conflicting rows: Row 63850385 (NC_000012.11:38426314:C:G 2555/16760) Row 63850386 (NC_000012.11:38426314:C:T 10/16760)	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 63850385 (NC_000012.11:38426314:C:G 2555/16760) Row 63850386 (NC_000012.11:38426314:C:T 10/16760)	-	Apr 26, 2021 (155)
85	14KJPN Submission ignored due to conflicting rows: Row 89379808 (NC_000012.12:38032512:C:G 4263/28258) Row 89379809 (NC_000012.12:38032512:C:T 24/28258)	-	Oct 16, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 89379808 (NC_000012.12:38032512:C:G 4263/28258) Row 89379809 (NC_000012.12:38032512:C:T 24/28258)	-	Oct 16, 2022 (156)
87	TopMed	NC_000012.12 - 38032513	Apr 26, 2021 (155)
88	UK 10K study - Twins	NC_000012.11 - 38426315	Oct 12, 2018 (152)
89	A Vietnamese Genetic Variation Database	NC_000012.11 - 38426315	Jul 13, 2019 (153)
90	ALFA	NC_000012.12 - 38032513	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)
rs11491063	Mar 11, 2006 (126)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
14686209033	NC_000012.12:38032512:C:A	NC_000012.12:38032512:C:A	(self)
ss35196946	NC_000012.9:36712581:C:G	NC_000012.12:38032512:C:G	(self)
ss89094389, ss168141610, ss208347453, ss255044197, ss281357228, ss291422274, ss1599100446	NC_000012.10:36712581:C:G	NC_000012.12:38032512:C:G	(self)
57367356, 31857285, 22544287, 2925421, 14217620, 33851126, 12221482, 14840133, 30091647, 7998548, 31857285, 7069653, ss225703896, ss235899509, ss242463821, ss563110228, ss658654514, ss989434379, ss1078390796, ss1344632801, ss1426904636, ss1576226617, ss1628393382, ss1671387415, ss1807203261, ss1932798203, ss2027149728, ss2155482194, ss2699819641, ss2909403661, ss3009526629, ss3350020426, ss3676806039, ss3738936617, ss3750363427, ss3787200332, ss3792306521, ss3797189268, ss3833074873, ss3840106953, ss3878074667, ss3926673732, ss5205881078, ss5405037975, ss5510662949, ss5652961085, ss5837839492, ss5944316753	NC_000012.11:38426314:C:G	NC_000012.12:38032512:C:G	(self)
75315975, 130465103, 14686209033, ss2189020923, ss3027383609, ss3649817080, ss3693483447, ss3815690867, ss3845592693, ss3971737458, ss4914919446, ss5290470091, ss5587790040, ss5755542704, ss5813213484, ss5850339869, ss5904010479	NC_000012.12:38032512:C:G	NC_000012.12:38032512:C:G	(self)
ss12579943, ss12582838	NT_029419.10:569620:C:G	NC_000012.12:38032512:C:G	(self)
ss15453754	NT_029419.12:569620:C:G	NC_000012.12:38032512:C:G	(self)
ss1599100447	NC_000012.10:36712581:C:T	NC_000012.12:38032512:C:T	(self)
33851126, ss3926673732, ss5205881079	NC_000012.11:38426314:C:T	NC_000012.12:38032512:C:T	(self)
14686209033, ss3693483448, ss3971737459, ss5755542705	NC_000012.12:38032512:C:T	NC_000012.12:38032512: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 rs8175936

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

rs8175936