Name: rs75061066
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.

rs75061066

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:40600834 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.027353 (7240/264690, TOPMED)
G=0.018476 (2588/140072, GnomAD)
G=0.03815 (1078/28258, 14KJPN) (+ 16 more)
G=0.01271 (240/18890, ALFA)
G=0.03986 (668/16760, 8.3KJPN)
G=0.0428 (274/6404, 1000G_30x)
G=0.0431 (216/5008, 1000G)
G=0.0118 (53/4480, Estonian)
G=0.0034 (13/3854, ALSPAC)
G=0.0016 (6/3708, TWINSUK)
G=0.0481 (141/2930, KOREAN)
G=0.0469 (86/1832, Korea1K)
G=0.001 (1/998, GoNL)
G=0.010 (6/600, NorthernSweden)
G=0.032 (7/216, Qatari)
A=0.44 (31/70, SGDP_PRJ)
G=0.03 (1/40, GENOME_DK)
A=0.5 (4/8, Siberian)
G=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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	18890	A=0.98729	G=0.01271
European	Sub	14286	A=0.99503	G=0.00497
African	Sub	2946	A=0.9973	G=0.0027
African Others	Sub	114	A=0.991	G=0.009
African American	Sub	2832	A=0.9975	G=0.0025
Asian	Sub	112	A=0.955	G=0.045
East Asian	Sub	86	A=0.95	G=0.05
Other Asian	Sub	26	A=0.96	G=0.04
Latin American 1	Sub	146	A=0.952	G=0.048
Latin American 2	Sub	610	A=0.800	G=0.200
South Asian	Sub	98	A=0.90	G=0.10
Other	Sub	692	A=0.975	G=0.025

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	A=0.972647	G=0.027353
gnomAD - Genomes	Global	Study-wide	140072	A=0.981524	G=0.018476
gnomAD - Genomes	European	Sub	75880	A=0.99096	G=0.00904
gnomAD - Genomes	African	Sub	42000	A=0.99510	G=0.00490
gnomAD - Genomes	American	Sub	13604	A=0.89091	G=0.10909
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.9982	G=0.0018
gnomAD - Genomes	East Asian	Sub	3124	A=0.9539	G=0.0461
gnomAD - Genomes	Other	Sub	2144	A=0.9711	G=0.0289
14KJPN	JAPANESE	Study-wide	28258	A=0.96185	G=0.03815
Allele Frequency Aggregator	Total	Global	18890	A=0.98729	G=0.01271
Allele Frequency Aggregator	European	Sub	14286	A=0.99503	G=0.00497
Allele Frequency Aggregator	African	Sub	2946	A=0.9973	G=0.0027
Allele Frequency Aggregator	Other	Sub	692	A=0.975	G=0.025
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.800	G=0.200
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.952	G=0.048
Allele Frequency Aggregator	Asian	Sub	112	A=0.955	G=0.045
Allele Frequency Aggregator	South Asian	Sub	98	A=0.90	G=0.10
8.3KJPN	JAPANESE	Study-wide	16760	A=0.96014	G=0.03986
1000Genomes_30x	Global	Study-wide	6404	A=0.9572	G=0.0428
1000Genomes_30x	African	Sub	1786	A=0.9983	G=0.0017
1000Genomes_30x	Europe	Sub	1266	A=0.9961	G=0.0039
1000Genomes_30x	South Asian	Sub	1202	A=0.9542	G=0.0458
1000Genomes_30x	East Asian	Sub	1170	A=0.9427	G=0.0573
1000Genomes_30x	American	Sub	980	A=0.853	G=0.147
1000Genomes	Global	Study-wide	5008	A=0.9569	G=0.0431
1000Genomes	African	Sub	1322	A=0.9977	G=0.0023
1000Genomes	East Asian	Sub	1008	A=0.9425	G=0.0575
1000Genomes	Europe	Sub	1006	A=0.9960	G=0.0040
1000Genomes	South Asian	Sub	978	A=0.954	G=0.046
1000Genomes	American	Sub	694	A=0.847	G=0.153
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.9882	G=0.0118
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.9966	G=0.0034
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.9984	G=0.0016
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.9519	G=0.0481
Korean Genome Project	KOREAN	Study-wide	1832	A=0.9531	G=0.0469
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.999	G=0.001
Northern Sweden	ACPOP	Study-wide	600	A=0.990	G=0.010
Qatari	Global	Study-wide	216	A=0.968	G=0.032
SGDP_PRJ	Global	Study-wide	70	A=0.44	G=0.56
The Danish reference pan genome	Danish	Study-wide	40	A=0.97	G=0.03
Siberian	Global	Study-wide	8	A=0.5	G=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 12	NC_000012.12:g.40600834A>G
GRCh37.p13 chr 12	NC_000012.11:g.40994636A>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	A=	G
GRCh38.p14 chr 12	NC_000012.12:g.40600834=	NC_000012.12:g.40600834A>G
GRCh37.p13 chr 12	NC_000012.11:g.40994636=	NC_000012.11:g.40994636A>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#.

40 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss157389281	Dec 01, 2009 (131)
2	1000GENOMES	ss242469810	Jul 15, 2010 (132)
3	GMI	ss281365349	May 04, 2012 (137)
4	SSMP	ss658667519	Apr 25, 2013 (138)
5	EVA-GONL	ss989454789	Aug 21, 2014 (142)
6	JMKIDD_LAB	ss1078404511	Aug 21, 2014 (142)
7	1000GENOMES	ss1344709908	Aug 21, 2014 (142)
8	EVA_GENOME_DK	ss1576237463	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1628433342	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1671427375	Apr 01, 2015 (144)
11	WEILL_CORNELL_DGM	ss1932818373	Feb 12, 2016 (147)
12	JJLAB	ss2027160016	Sep 14, 2016 (149)
13	USC_VALOUEV	ss2155493453	Dec 20, 2016 (150)
14	HUMAN_LONGEVITY	ss2189155924	Dec 20, 2016 (150)
15	ILLUMINA	ss2632950258	Nov 08, 2017 (151)
16	GRF	ss2699832941	Nov 08, 2017 (151)
17	GNOMAD	ss2909624850	Nov 08, 2017 (151)
18	SWEGEN	ss3009559753	Nov 08, 2017 (151)
19	EGCUT_WGS	ss3676834585	Jul 13, 2019 (153)
20	EVA_DECODE	ss3693521035	Jul 13, 2019 (153)
21	ACPOP	ss3738953843	Jul 13, 2019 (153)
22	EVA	ss3750386215	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3815715023	Jul 13, 2019 (153)
24	SGDP_PRJ	ss3878115589	Apr 27, 2020 (154)
25	KRGDB	ss3926721968	Apr 27, 2020 (154)
26	KOGIC	ss3971774416	Apr 27, 2020 (154)
27	TOPMED	ss4915599082	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5205967453	Apr 26, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5290538072	Oct 13, 2022 (156)
30	EVA	ss5405154819	Oct 13, 2022 (156)
31	HUGCELL_USP	ss5485325276	Oct 13, 2022 (156)
32	EVA	ss5510673064	Oct 13, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5587892635	Oct 13, 2022 (156)
34	SANFORD_IMAGENETICS	ss5653000770	Oct 13, 2022 (156)
35	TOMMO_GENOMICS	ss5755654262	Oct 13, 2022 (156)
36	YY_MCH	ss5813229940	Oct 13, 2022 (156)
37	EVA	ss5837864982	Oct 13, 2022 (156)
38	EVA	ss5850347761	Oct 13, 2022 (156)
39	EVA	ss5904086002	Oct 13, 2022 (156)
40	EVA	ss5944358609	Oct 13, 2022 (156)
41	1000Genomes	NC_000012.11 - 40994636	Oct 12, 2018 (152)
42	1000Genomes_30x	NC_000012.12 - 40600834	Oct 13, 2022 (156)
43	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 40994636	Oct 12, 2018 (152)
44	Genetic variation in the Estonian population	NC_000012.11 - 40994636	Oct 12, 2018 (152)
45	The Danish reference pan genome	NC_000012.11 - 40994636	Apr 27, 2020 (154)
46	gnomAD - Genomes	NC_000012.12 - 40600834	Apr 26, 2021 (155)
47	Genome of the Netherlands Release 5	NC_000012.11 - 40994636	Apr 27, 2020 (154)
48	KOREAN population from KRGDB	NC_000012.11 - 40994636	Apr 27, 2020 (154)
49	Korean Genome Project	NC_000012.12 - 40600834	Apr 27, 2020 (154)
50	Northern Sweden	NC_000012.11 - 40994636	Jul 13, 2019 (153)
51	Qatari	NC_000012.11 - 40994636	Apr 27, 2020 (154)
52	SGDP_PRJ	NC_000012.11 - 40994636	Apr 27, 2020 (154)
53	Siberian	NC_000012.11 - 40994636	Apr 27, 2020 (154)
54	8.3KJPN	NC_000012.11 - 40994636	Apr 26, 2021 (155)
55	14KJPN	NC_000012.12 - 40600834	Oct 13, 2022 (156)
56	TopMed	NC_000012.12 - 40600834	Apr 26, 2021 (155)
57	UK 10K study - Twins	NC_000012.11 - 40994636	Oct 12, 2018 (152)
58	ALFA	NC_000012.12 - 40600834	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss281365349	NC_000012.10:39280902:A:G	NC_000012.12:40600833:A:G	(self)
57447292, 31901036, 22572833, 2933269, 14237458, 33899362, 12238708, 14860303, 30132569, 8009807, 63936760, 31901036, ss242469810, ss658667519, ss989454789, ss1078404511, ss1344709908, ss1576237463, ss1628433342, ss1671427375, ss1932818373, ss2027160016, ss2155493453, ss2632950258, ss2699832941, ss2909624850, ss3009559753, ss3676834585, ss3738953843, ss3750386215, ss3878115589, ss3926721968, ss5205967453, ss5405154819, ss5510673064, ss5653000770, ss5837864982, ss5944358609	NC_000012.11:40994635:A:G	NC_000012.12:40600833:A:G	(self)
75418570, 405097820, 28152417, 89491366, 131144739, 15500756624, ss2189155924, ss3693521035, ss3815715023, ss3971774416, ss4915599082, ss5290538072, ss5485325276, ss5587892635, ss5755654262, ss5813229940, ss5850347761, ss5904086002	NC_000012.12:40600833:A:G	NC_000012.12:40600833:A:G	(self)
ss157389281	NT_029419.12:3137941:A:G	NC_000012.12:40600833:A: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 rs75061066

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

rs75061066