Name: rs12093882
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.

rs12093882

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:240961911 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.051275 (13572/264690, TOPMED)
A=0.049368 (6873/139220, GnomAD)
A=0.00856 (242/28256, 14KJPN) (+ 16 more)
A=0.03319 (637/19190, ALFA)
A=0.00829 (139/16760, 8.3KJPN)
A=0.0523 (335/6404, 1000G_30x)
A=0.0529 (265/5008, 1000G)
A=0.0112 (50/4480, Estonian)
A=0.0135 (52/3854, ALSPAC)
A=0.0156 (58/3708, TWINSUK)
A=0.0133 (39/2922, KOREAN)
A=0.0109 (20/1832, Korea1K)
A=0.013 (13/998, GoNL)
A=0.007 (4/600, NorthernSweden)
A=0.070 (23/328, HapMap)
A=0.023 (5/216, Qatari)
C=0.35 (24/68, SGDP_PRJ)
C=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RGS7 : Intron Variant
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	19190	C=0.96681	A=0.03319
European	Sub	14286	C=0.98614	A=0.01386
African	Sub	2970	C=0.8684	A=0.1316
African Others	Sub	114	C=0.921	A=0.079
African American	Sub	2856	C=0.8662	A=0.1338
Asian	Sub	116	C=1.000	A=0.000
East Asian	Sub	88	C=1.00	A=0.00
Other Asian	Sub	28	C=1.00	A=0.00
Latin American 1	Sub	154	C=0.948	A=0.052
Latin American 2	Sub	616	C=0.987	A=0.013
South Asian	Sub	98	C=1.00	A=0.00
Other	Sub	950	C=0.966	A=0.034

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.948725	A=0.051275
gnomAD - Genomes	Global	Study-wide	139220	C=0.950632	A=0.049368
gnomAD - Genomes	European	Sub	75524	C=0.98765	A=0.01235
gnomAD - Genomes	African	Sub	41588	C=0.86847	A=0.13153
gnomAD - Genomes	American	Sub	13554	C=0.97764	A=0.02236
gnomAD - Genomes	Ashkenazi Jewish	Sub	3308	C=0.9885	A=0.0115
gnomAD - Genomes	East Asian	Sub	3120	C=0.9901	A=0.0099
gnomAD - Genomes	Other	Sub	2126	C=0.9539	A=0.0461
14KJPN	JAPANESE	Study-wide	28256	C=0.99144	A=0.00856
Allele Frequency Aggregator	Total	Global	19190	C=0.96681	A=0.03319
Allele Frequency Aggregator	European	Sub	14286	C=0.98614	A=0.01386
Allele Frequency Aggregator	African	Sub	2970	C=0.8684	A=0.1316
Allele Frequency Aggregator	Other	Sub	950	C=0.966	A=0.034
Allele Frequency Aggregator	Latin American 2	Sub	616	C=0.987	A=0.013
Allele Frequency Aggregator	Latin American 1	Sub	154	C=0.948	A=0.052
Allele Frequency Aggregator	Asian	Sub	116	C=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=1.00	A=0.00
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99171	A=0.00829
1000Genomes_30x	Global	Study-wide	6404	C=0.9477	A=0.0523
1000Genomes_30x	African	Sub	1786	C=0.8455	A=0.1545
1000Genomes_30x	Europe	Sub	1266	C=0.9929	A=0.0071
1000Genomes_30x	South Asian	Sub	1202	C=0.9850	A=0.0150
1000Genomes_30x	East Asian	Sub	1170	C=0.9889	A=0.0111
1000Genomes_30x	American	Sub	980	C=0.981	A=0.019
1000Genomes	Global	Study-wide	5008	C=0.9471	A=0.0529
1000Genomes	African	Sub	1322	C=0.8374	A=0.1626
1000Genomes	East Asian	Sub	1008	C=0.9871	A=0.0129
1000Genomes	Europe	Sub	1006	C=0.9930	A=0.0070
1000Genomes	South Asian	Sub	978	C=0.984	A=0.016
1000Genomes	American	Sub	694	C=0.980	A=0.020
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9888	A=0.0112
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9865	A=0.0135
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9844	A=0.0156
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9867	A=0.0133
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9891	A=0.0109
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.987	A=0.013
Northern Sweden	ACPOP	Study-wide	600	C=0.993	A=0.007
HapMap	Global	Study-wide	328	C=0.930	A=0.070
HapMap	African	Sub	120	C=0.817	A=0.183
HapMap	American	Sub	120	C=1.000	A=0.000
HapMap	Asian	Sub	88	C=0.99	A=0.01
Qatari	Global	Study-wide	216	C=0.977	A=0.023
SGDP_PRJ	Global	Study-wide	68	C=0.35	A=0.65
Siberian	Global	Study-wide	2	C=0.5	A=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 1	NC_000001.11:g.240961911C>A
GRCh37.p13 chr 1	NC_000001.10:g.241125211C>A

Gene: RGS7, regulator of G protein signaling 7 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RGS7 transcript variant 2	NM_001282773.2:c.226+2116… NM_001282773.2:c.226+21168G>T	N/A	Intron Variant
RGS7 transcript variant 3	NM_001282775.2:c.226+2116… NM_001282775.2:c.226+21168G>T	N/A	Intron Variant
RGS7 transcript variant 4	NM_001282778.2:c.226+2116… NM_001282778.2:c.226+21168G>T	N/A	Intron Variant
RGS7 transcript variant 5	NM_001350113.2:c.148+2116… NM_001350113.2:c.148+21168G>T	N/A	Intron Variant
RGS7 transcript variant 6	NM_001350114.2:c.148+2116… NM_001350114.2:c.148+21168G>T	N/A	Intron Variant
RGS7 transcript variant 7	NM_001350115.2:c.148+2116… NM_001350115.2:c.148+21168G>T	N/A	Intron Variant
RGS7 transcript variant 8	NM_001350116.1:c.148+2116… NM_001350116.1:c.148+21168G>T	N/A	Intron Variant
RGS7 transcript variant 9	NM_001364886.1:c.226+2116… NM_001364886.1:c.226+21168G>T	N/A	Intron Variant
RGS7 transcript variant 10	NM_001374806.1:c.176-2520… NM_001374806.1:c.176-25205G>T	N/A	Intron Variant
RGS7 transcript variant 11	NM_001374807.1:c.176-2520… NM_001374807.1:c.176-25205G>T	N/A	Intron Variant
RGS7 transcript variant 12	NM_001374808.1:c.148+2116… NM_001374808.1:c.148+21168G>T	N/A	Intron Variant
RGS7 transcript variant 13	NM_001374809.1:c.-64+2116… NM_001374809.1:c.-64+21168G>T	N/A	Intron Variant
RGS7 transcript variant 14	NM_001374810.1:c.-64+2116… NM_001374810.1:c.-64+21168G>T	N/A	Intron Variant
RGS7 transcript variant 16	NM_001374811.1:c.226+2116… NM_001374811.1:c.226+21168G>T	N/A	Intron Variant
RGS7 transcript variant 15	NM_001374812.1:c.226+2116… NM_001374812.1:c.226+21168G>T	N/A	Intron Variant
RGS7 transcript variant 17	NM_001374813.1:c.-64+2116… NM_001374813.1:c.-64+21168G>T	N/A	Intron Variant
RGS7 transcript variant 18	NM_001374814.1:c.226+2116… NM_001374814.1:c.226+21168G>T	N/A	Intron Variant
RGS7 transcript variant 19	NM_001374815.1:c.226+2116… NM_001374815.1:c.226+21168G>T	N/A	Intron Variant
RGS7 transcript variant 20	NM_001374816.1:c.226+2116… NM_001374816.1:c.226+21168G>T	N/A	Intron Variant
RGS7 transcript variant 1	NM_002924.6:c.226+21168G>T	N/A	Intron Variant
RGS7 transcript variant X2	XM_017002009.2:c.148+2116… XM_017002009.2:c.148+21168G>T	N/A	Intron Variant
RGS7 transcript variant X1	XM_047426980.1:c.148+2116… XM_047426980.1:c.148+21168G>T	N/A	Intron Variant

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
GRCh38.p14 chr 1	NC_000001.11:g.240961911=	NC_000001.11:g.240961911C>A
GRCh37.p13 chr 1	NC_000001.10:g.241125211=	NC_000001.10:g.241125211C>A
RGS7 transcript variant 2	NM_001282773.2:c.226+21168=	NM_001282773.2:c.226+21168G>T
RGS7 transcript variant 3	NM_001282775.2:c.226+21168=	NM_001282775.2:c.226+21168G>T
RGS7 transcript variant 4	NM_001282778.2:c.226+21168=	NM_001282778.2:c.226+21168G>T
RGS7 transcript variant 5	NM_001350113.2:c.148+21168=	NM_001350113.2:c.148+21168G>T
RGS7 transcript variant 6	NM_001350114.2:c.148+21168=	NM_001350114.2:c.148+21168G>T
RGS7 transcript variant 7	NM_001350115.2:c.148+21168=	NM_001350115.2:c.148+21168G>T
RGS7 transcript variant 8	NM_001350116.1:c.148+21168=	NM_001350116.1:c.148+21168G>T
RGS7 transcript variant 9	NM_001364886.1:c.226+21168=	NM_001364886.1:c.226+21168G>T
RGS7 transcript variant 10	NM_001374806.1:c.176-25205=	NM_001374806.1:c.176-25205G>T
RGS7 transcript variant 11	NM_001374807.1:c.176-25205=	NM_001374807.1:c.176-25205G>T
RGS7 transcript variant 12	NM_001374808.1:c.148+21168=	NM_001374808.1:c.148+21168G>T
RGS7 transcript variant 13	NM_001374809.1:c.-64+21168=	NM_001374809.1:c.-64+21168G>T
RGS7 transcript variant 14	NM_001374810.1:c.-64+21168=	NM_001374810.1:c.-64+21168G>T
RGS7 transcript variant 16	NM_001374811.1:c.226+21168=	NM_001374811.1:c.226+21168G>T
RGS7 transcript variant 15	NM_001374812.1:c.226+21168=	NM_001374812.1:c.226+21168G>T
RGS7 transcript variant 17	NM_001374813.1:c.-64+21168=	NM_001374813.1:c.-64+21168G>T
RGS7 transcript variant 18	NM_001374814.1:c.226+21168=	NM_001374814.1:c.226+21168G>T
RGS7 transcript variant 19	NM_001374815.1:c.226+21168=	NM_001374815.1:c.226+21168G>T
RGS7 transcript variant 20	NM_001374816.1:c.226+21168=	NM_001374816.1:c.226+21168G>T
RGS7 transcript	NM_002924.4:c.226+21168=	NM_002924.4:c.226+21168G>T
RGS7 transcript variant 1	NM_002924.6:c.226+21168=	NM_002924.6:c.226+21168G>T
RGS7 transcript variant X1	XM_005273218.1:c.226+21168=	XM_005273218.1:c.226+21168G>T
RGS7 transcript variant X2	XM_005273219.1:c.226+21168=	XM_005273219.1:c.226+21168G>T
RGS7 transcript variant X3	XM_005273220.1:c.226+21168=	XM_005273220.1:c.226+21168G>T
RGS7 transcript variant X4	XM_005273221.1:c.148+21168=	XM_005273221.1:c.148+21168G>T
RGS7 transcript variant X5	XM_005273222.1:c.226+21168=	XM_005273222.1:c.226+21168G>T
RGS7 transcript variant X6	XM_005273223.1:c.226+21168=	XM_005273223.1:c.226+21168G>T
RGS7 transcript variant X2	XM_017002009.2:c.148+21168=	XM_017002009.2:c.148+21168G>T
RGS7 transcript variant X1	XM_047426980.1:c.148+21168=	XM_047426980.1:c.148+21168G>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#.

45 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18205408	Feb 28, 2004 (120)
2	HGSV	ss85464546	Dec 14, 2007 (130)
3	1000GENOMES	ss112036243	Jan 25, 2009 (130)
4	COMPLETE_GENOMICS	ss165537848	Jul 04, 2010 (132)
5	1000GENOMES	ss218977903	Jul 14, 2010 (132)
6	GMI	ss276288914	May 04, 2012 (137)
7	ILLUMINA	ss534019543	Sep 08, 2015 (146)
8	TISHKOFF	ss555253256	Apr 25, 2013 (138)
9	SSMP	ss648827486	Apr 25, 2013 (138)
10	EVA-GONL	ss976330773	Aug 21, 2014 (142)
11	JMKIDD_LAB	ss1068742638	Aug 21, 2014 (142)
12	1000GENOMES	ss1295335971	Aug 21, 2014 (142)
13	EVA_DECODE	ss1585735073	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1602508218	Apr 01, 2015 (144)
15	EVA_UK10K_TWINSUK	ss1645502251	Apr 01, 2015 (144)
16	HAMMER_LAB	ss1795997783	Sep 08, 2015 (146)
17	WEILL_CORNELL_DGM	ss1919552410	Feb 12, 2016 (147)
18	USC_VALOUEV	ss2148341798	Dec 20, 2016 (150)
19	HUMAN_LONGEVITY	ss2171498006	Dec 20, 2016 (150)
20	GRF	ss2698345263	Nov 08, 2017 (151)
21	GNOMAD	ss2768140617	Nov 08, 2017 (151)
22	SWEGEN	ss2988736645	Nov 08, 2017 (151)
23	CSHL	ss3343996282	Nov 08, 2017 (151)
24	ILLUMINA	ss3626350102	Oct 11, 2018 (152)
25	EGCUT_WGS	ss3656697825	Jul 12, 2019 (153)
26	ACPOP	ss3728018461	Jul 12, 2019 (153)
27	EVA	ss3747553041	Jul 12, 2019 (153)
28	KHV_HUMAN_GENOMES	ss3800556459	Jul 12, 2019 (153)
29	SGDP_PRJ	ss3851261256	Apr 25, 2020 (154)
30	KRGDB	ss3896621539	Apr 25, 2020 (154)
31	KOGIC	ss3946845402	Apr 25, 2020 (154)
32	TOPMED	ss4489488110	Apr 25, 2021 (155)
33	TOMMO_GENOMICS	ss5149216598	Apr 25, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5246398530	Oct 17, 2022 (156)
35	EVA	ss5325885389	Oct 17, 2022 (156)
36	HUGCELL_USP	ss5446778274	Oct 17, 2022 (156)
37	EVA	ss5506249578	Oct 17, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5520795511	Oct 17, 2022 (156)
39	SANFORD_IMAGENETICS	ss5627792824	Oct 17, 2022 (156)
40	TOMMO_GENOMICS	ss5677203738	Oct 17, 2022 (156)
41	YY_MCH	ss5801795215	Oct 17, 2022 (156)
42	EVA	ss5833508589	Oct 17, 2022 (156)
43	EVA	ss5849365568	Oct 17, 2022 (156)
44	EVA	ss5912665897	Oct 17, 2022 (156)
45	EVA	ss5939643374	Oct 17, 2022 (156)
46	1000Genomes	NC_000001.10 - 241125211	Oct 11, 2018 (152)
47	1000Genomes_30x	NC_000001.11 - 240961911	Oct 17, 2022 (156)
48	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 241125211	Oct 11, 2018 (152)
49	Genetic variation in the Estonian population	NC_000001.10 - 241125211	Oct 11, 2018 (152)
50	gnomAD - Genomes	NC_000001.11 - 240961911	Apr 25, 2021 (155)
51	Genome of the Netherlands Release 5	NC_000001.10 - 241125211	Apr 25, 2020 (154)
52	HapMap	NC_000001.11 - 240961911	Apr 25, 2020 (154)
53	KOREAN population from KRGDB	NC_000001.10 - 241125211	Apr 25, 2020 (154)
54	Korean Genome Project	NC_000001.11 - 240961911	Apr 25, 2020 (154)
55	Northern Sweden	NC_000001.10 - 241125211	Jul 12, 2019 (153)
56	Qatari	NC_000001.10 - 241125211	Apr 25, 2020 (154)
57	SGDP_PRJ	NC_000001.10 - 241125211	Apr 25, 2020 (154)
58	Siberian	NC_000001.10 - 241125211	Apr 25, 2020 (154)
59	8.3KJPN	NC_000001.10 - 241125211	Apr 25, 2021 (155)
60	14KJPN	NC_000001.11 - 240961911	Oct 17, 2022 (156)
61	TopMed	NC_000001.11 - 240961911	Apr 25, 2021 (155)
62	UK 10K study - Twins	NC_000001.10 - 241125211	Oct 11, 2018 (152)
63	ALFA	NC_000001.11 - 240961911	Apr 25, 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)
rs56883063	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss85464546	NC_000001.8:237451251:C:A	NC_000001.11:240961910:C:A	(self)
ss112036243, ss165537848, ss276288914, ss1585735073	NC_000001.9:239191833:C:A	NC_000001.11:240961910:C:A	(self)
6216189, 3444468, 2436073, 1508860, 3798933, 1303326, 1594340, 3278236, 858152, 7185905, 3444468, ss218977903, ss534019543, ss555253256, ss648827486, ss976330773, ss1068742638, ss1295335971, ss1602508218, ss1645502251, ss1795997783, ss1919552410, ss2148341798, ss2698345263, ss2768140617, ss2988736645, ss3343996282, ss3626350102, ss3656697825, ss3728018461, ss3747553041, ss3851261256, ss3896621539, ss5149216598, ss5325885389, ss5506249578, ss5627792824, ss5833508589, ss5939643374	NC_000001.10:241125210:C:A	NC_000001.11:240961910:C:A	(self)
8321446, 44477939, 305988, 3223403, 11040842, 53094445, 5951458137, ss2171498006, ss3800556459, ss3946845402, ss4489488110, ss5246398530, ss5446778274, ss5520795511, ss5677203738, ss5801795215, ss5849365568, ss5912665897	NC_000001.11:240961910:C:A	NC_000001.11:240961910:C:A	(self)
ss18205408	NT_004836.15:5882999:C:A	NC_000001.11:240961910:C:A	(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 rs12093882

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

rs12093882