Name: rs55815136
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.

rs55815136

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:241165530 (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 / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.100654 (26642/264690, TOPMED)
T=0.092010 (12844/139594, GnomAD)
T=0.16333 (4615/28256, 14KJPN) (+ 11 more)
T=0.16587 (2780/16760, 8.3KJPN)
T=0.08137 (1312/16124, ALFA)
T=0.0912 (584/6404, 1000G_30x)
T=0.0905 (453/5008, 1000G)
T=0.1875 (548/2922, KOREAN)
T=0.2123 (389/1832, Korea1K)
T=0.111 (111/998, GoNL)
T=0.092 (55/600, NorthernSweden)
T=0.181 (39/216, Qatari)
A=0.44 (44/100, SGDP_PRJ)
T=0.07 (3/40, GENOME_DK)

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	16124	A=0.91863	G=0.00000, T=0.08137
European	Sub	11932	A=0.91376	G=0.00000, T=0.08624
African	Sub	2756	A=0.9597	G=0.0000, T=0.0403
African Others	Sub	108	A=0.981	G=0.000, T=0.019
African American	Sub	2648	A=0.9588	G=0.0000, T=0.0412
Asian	Sub	108	A=0.769	G=0.000, T=0.231
East Asian	Sub	84	A=0.73	G=0.00, T=0.27
Other Asian	Sub	24	A=0.92	G=0.00, T=0.08
Latin American 1	Sub	146	A=0.897	G=0.000, T=0.103
Latin American 2	Sub	610	A=0.880	G=0.000, T=0.120
South Asian	Sub	94	A=0.91	G=0.00, T=0.09
Other	Sub	478	A=0.893	G=0.000, T=0.107

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=0.899346	T=0.100654
gnomAD - Genomes	Global	Study-wide	139594	A=0.907990	T=0.092010
gnomAD - Genomes	European	Sub	75704	A=0.89866	T=0.10134
gnomAD - Genomes	African	Sub	41756	A=0.94650	T=0.05350
gnomAD - Genomes	American	Sub	13562	A=0.88188	T=0.11812
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	A=0.8526	T=0.1474
gnomAD - Genomes	East Asian	Sub	3112	A=0.8043	T=0.1957
gnomAD - Genomes	Other	Sub	2142	A=0.8889	T=0.1111
14KJPN	JAPANESE	Study-wide	28256	A=0.83667	T=0.16333
8.3KJPN	JAPANESE	Study-wide	16760	A=0.83413	T=0.16587
Allele Frequency Aggregator	Total	Global	16124	A=0.91863	G=0.00000, T=0.08137
Allele Frequency Aggregator	European	Sub	11932	A=0.91376	G=0.00000, T=0.08624
Allele Frequency Aggregator	African	Sub	2756	A=0.9597	G=0.0000, T=0.0403
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.880	G=0.000, T=0.120
Allele Frequency Aggregator	Other	Sub	478	A=0.893	G=0.000, T=0.107
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.897	G=0.000, T=0.103
Allele Frequency Aggregator	Asian	Sub	108	A=0.769	G=0.000, T=0.231
Allele Frequency Aggregator	South Asian	Sub	94	A=0.91	G=0.00, T=0.09
1000Genomes_30x	Global	Study-wide	6404	A=0.9088	T=0.0912
1000Genomes_30x	African	Sub	1786	A=0.9518	T=0.0482
1000Genomes_30x	Europe	Sub	1266	A=0.8807	T=0.1193
1000Genomes_30x	South Asian	Sub	1202	A=0.9576	T=0.0424
1000Genomes_30x	East Asian	Sub	1170	A=0.8436	T=0.1564
1000Genomes_30x	American	Sub	980	A=0.885	T=0.115
1000Genomes	Global	Study-wide	5008	A=0.9095	T=0.0905
1000Genomes	African	Sub	1322	A=0.9539	T=0.0461
1000Genomes	East Asian	Sub	1008	A=0.8472	T=0.1528
1000Genomes	Europe	Sub	1006	A=0.8797	T=0.1203
1000Genomes	South Asian	Sub	978	A=0.959	T=0.041
1000Genomes	American	Sub	694	A=0.889	T=0.111
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.8125	T=0.1875
Korean Genome Project	KOREAN	Study-wide	1832	A=0.7877	T=0.2123
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.889	T=0.111
Northern Sweden	ACPOP	Study-wide	600	A=0.908	T=0.092
Qatari	Global	Study-wide	216	A=0.819	T=0.181
SGDP_PRJ	Global	Study-wide	100	A=0.44	T=0.56
The Danish reference pan genome	Danish	Study-wide	40	A=0.93	T=0.07

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.241165530A>G
GRCh38.p14 chr 1	NC_000001.11:g.241165530A>T
GRCh37.p13 chr 1	NC_000001.10:g.241328830A>G
GRCh37.p13 chr 1	NC_000001.10:g.241328830A>T

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.79-66768… NM_001282773.2:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant 3	NM_001282775.2:c.79-66768… NM_001282775.2:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant 4	NM_001282778.2:c.79-66768… NM_001282778.2:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant 5	NM_001350113.2:c.1-66768T… NM_001350113.2:c.1-66768T>C	N/A	Intron Variant
RGS7 transcript variant 6	NM_001350114.2:c.1-66768T… NM_001350114.2:c.1-66768T>C	N/A	Intron Variant
RGS7 transcript variant 7	NM_001350115.2:c.1-66768T… NM_001350115.2:c.1-66768T>C	N/A	Intron Variant
RGS7 transcript variant 8	NM_001350116.1:c.1-66768T… NM_001350116.1:c.1-66768T>C	N/A	Intron Variant
RGS7 transcript variant 9	NM_001364886.1:c.79-66768… NM_001364886.1:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant 10	NM_001374806.1:c.79-66768… NM_001374806.1:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant 11	NM_001374807.1:c.79-66768… NM_001374807.1:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant 12	NM_001374808.1:c.-146-635… NM_001374808.1:c.-146-63552T>C	N/A	Intron Variant
RGS7 transcript variant 13	NM_001374809.1:c.-211-667… NM_001374809.1:c.-211-66768T>C	N/A	Intron Variant
RGS7 transcript variant 14	NM_001374810.1:c.-211-667… NM_001374810.1:c.-211-66768T>C	N/A	Intron Variant
RGS7 transcript variant 16	NM_001374811.1:c.79-66768… NM_001374811.1:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant 15	NM_001374812.1:c.79-66768… NM_001374812.1:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant 17	NM_001374813.1:c.-211-667… NM_001374813.1:c.-211-66768T>C	N/A	Intron Variant
RGS7 transcript variant 18	NM_001374814.1:c.79-66768… NM_001374814.1:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant 19	NM_001374815.1:c.79-66768… NM_001374815.1:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant 20	NM_001374816.1:c.79-66768… NM_001374816.1:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant 1	NM_002924.6:c.79-66768T>C	N/A	Intron Variant
RGS7 transcript variant X2	XM_017002009.2:c.	N/A	Genic Upstream Transcript Variant
RGS7 transcript variant X1	XM_047426980.1:c.	N/A	Genic Upstream Transcript 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	A=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.241165530=	NC_000001.11:g.241165530A>G	NC_000001.11:g.241165530A>T
GRCh37.p13 chr 1	NC_000001.10:g.241328830=	NC_000001.10:g.241328830A>G	NC_000001.10:g.241328830A>T
RGS7 transcript variant 2	NM_001282773.2:c.79-66768=	NM_001282773.2:c.79-66768T>C	NM_001282773.2:c.79-66768T>A
RGS7 transcript variant 3	NM_001282775.2:c.79-66768=	NM_001282775.2:c.79-66768T>C	NM_001282775.2:c.79-66768T>A
RGS7 transcript variant 4	NM_001282778.2:c.79-66768=	NM_001282778.2:c.79-66768T>C	NM_001282778.2:c.79-66768T>A
RGS7 transcript variant 5	NM_001350113.2:c.1-66768=	NM_001350113.2:c.1-66768T>C	NM_001350113.2:c.1-66768T>A
RGS7 transcript variant 6	NM_001350114.2:c.1-66768=	NM_001350114.2:c.1-66768T>C	NM_001350114.2:c.1-66768T>A
RGS7 transcript variant 7	NM_001350115.2:c.1-66768=	NM_001350115.2:c.1-66768T>C	NM_001350115.2:c.1-66768T>A
RGS7 transcript variant 8	NM_001350116.1:c.1-66768=	NM_001350116.1:c.1-66768T>C	NM_001350116.1:c.1-66768T>A
RGS7 transcript variant 9	NM_001364886.1:c.79-66768=	NM_001364886.1:c.79-66768T>C	NM_001364886.1:c.79-66768T>A
RGS7 transcript variant 10	NM_001374806.1:c.79-66768=	NM_001374806.1:c.79-66768T>C	NM_001374806.1:c.79-66768T>A
RGS7 transcript variant 11	NM_001374807.1:c.79-66768=	NM_001374807.1:c.79-66768T>C	NM_001374807.1:c.79-66768T>A
RGS7 transcript variant 12	NM_001374808.1:c.-146-63552=	NM_001374808.1:c.-146-63552T>C	NM_001374808.1:c.-146-63552T>A
RGS7 transcript variant 13	NM_001374809.1:c.-211-66768=	NM_001374809.1:c.-211-66768T>C	NM_001374809.1:c.-211-66768T>A
RGS7 transcript variant 14	NM_001374810.1:c.-211-66768=	NM_001374810.1:c.-211-66768T>C	NM_001374810.1:c.-211-66768T>A
RGS7 transcript variant 16	NM_001374811.1:c.79-66768=	NM_001374811.1:c.79-66768T>C	NM_001374811.1:c.79-66768T>A
RGS7 transcript variant 15	NM_001374812.1:c.79-66768=	NM_001374812.1:c.79-66768T>C	NM_001374812.1:c.79-66768T>A
RGS7 transcript variant 17	NM_001374813.1:c.-211-66768=	NM_001374813.1:c.-211-66768T>C	NM_001374813.1:c.-211-66768T>A
RGS7 transcript variant 18	NM_001374814.1:c.79-66768=	NM_001374814.1:c.79-66768T>C	NM_001374814.1:c.79-66768T>A
RGS7 transcript variant 19	NM_001374815.1:c.79-66768=	NM_001374815.1:c.79-66768T>C	NM_001374815.1:c.79-66768T>A
RGS7 transcript variant 20	NM_001374816.1:c.79-66768=	NM_001374816.1:c.79-66768T>C	NM_001374816.1:c.79-66768T>A
RGS7 transcript	NM_002924.4:c.79-66768=	NM_002924.4:c.79-66768T>C	NM_002924.4:c.79-66768T>A
RGS7 transcript variant 1	NM_002924.6:c.79-66768=	NM_002924.6:c.79-66768T>C	NM_002924.6:c.79-66768T>A
RGS7 transcript variant X1	XM_005273218.1:c.79-66768=	XM_005273218.1:c.79-66768T>C	XM_005273218.1:c.79-66768T>A
RGS7 transcript variant X2	XM_005273219.1:c.79-66768=	XM_005273219.1:c.79-66768T>C	XM_005273219.1:c.79-66768T>A
RGS7 transcript variant X3	XM_005273220.1:c.79-66768=	XM_005273220.1:c.79-66768T>C	XM_005273220.1:c.79-66768T>A
RGS7 transcript variant X4	XM_005273221.1:c.-1+20925=	XM_005273221.1:c.-1+20925T>C	XM_005273221.1:c.-1+20925T>A
RGS7 transcript variant X5	XM_005273222.1:c.79-66768=	XM_005273222.1:c.79-66768T>C	XM_005273222.1:c.79-66768T>A
RGS7 transcript variant X6	XM_005273223.1:c.79-66768=	XM_005273223.1:c.79-66768T>C	XM_005273223.1:c.79-66768T>A

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#.

39 SubSNP, 14 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77726755	Dec 06, 2007 (129)
2	HGSV	ss86016608	Dec 15, 2007 (130)
3	BCM-HGSC-SUB	ss205452675	Jul 04, 2010 (132)
4	GMI	ss276289544	May 04, 2012 (137)
5	1000GENOMES	ss329331364	May 09, 2011 (134)
6	TISHKOFF	ss555254568	Apr 25, 2013 (138)
7	SSMP	ss648828610	Apr 25, 2013 (138)
8	EVA-GONL	ss976332502	Aug 21, 2014 (142)
9	1000GENOMES	ss1295342070	Aug 21, 2014 (142)
10	EVA_GENOME_DK	ss1574800104	Apr 01, 2015 (144)
11	HAMMER_LAB	ss1796000315	Sep 08, 2015 (146)
12	WEILL_CORNELL_DGM	ss1919554285	Feb 12, 2016 (147)
13	HUMAN_LONGEVITY	ss2171510590	Dec 20, 2016 (150)
14	SYSTEMSBIOZJU	ss2624665713	Nov 08, 2017 (151)
15	GRF	ss2698346329	Nov 08, 2017 (151)
16	GNOMAD	ss2768157139	Nov 08, 2017 (151)
17	SWEGEN	ss2988739036	Nov 08, 2017 (151)
18	CSHL	ss3343996966	Nov 08, 2017 (151)
19	ACPOP	ss3728019903	Jul 12, 2019 (153)
20	EVA	ss3747554922	Jul 12, 2019 (153)
21	PACBIO	ss3783737224	Jul 12, 2019 (153)
22	PACBIO	ss3789342039	Jul 12, 2019 (153)
23	PACBIO	ss3794214498	Jul 12, 2019 (153)
24	KHV_HUMAN_GENOMES	ss3800558564	Jul 12, 2019 (153)
25	EVA	ss3836772068	Apr 25, 2020 (154)
26	EVA	ss3842185026	Apr 25, 2020 (154)
27	SGDP_PRJ	ss3851264785	Apr 25, 2020 (154)
28	KRGDB	ss3896625015	Apr 25, 2020 (154)
29	KOGIC	ss3946848318	Apr 25, 2020 (154)
30	TOPMED	ss4489537796	Apr 27, 2021 (155)
31	TOMMO_GENOMICS	ss5149223085	Apr 27, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5246404090	Oct 12, 2022 (156)
33	EVA	ss5325895290	Oct 12, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5520803445	Oct 12, 2022 (156)
35	SANFORD_IMAGENETICS	ss5627796095	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5677212100	Oct 12, 2022 (156)
37	YY_MCH	ss5801796523	Oct 12, 2022 (156)
38	EVA	ss5833510835	Oct 12, 2022 (156)
39	EVA	ss5939646682	Oct 12, 2022 (156)
40	1000Genomes	NC_000001.10 - 241328830	Oct 11, 2018 (152)
41	1000Genomes_30x	NC_000001.11 - 241165530	Oct 12, 2022 (156)
42	The Danish reference pan genome	NC_000001.10 - 241328830	Apr 25, 2020 (154)
43	gnomAD - Genomes	NC_000001.11 - 241165530	Apr 27, 2021 (155)
44	Genome of the Netherlands Release 5	NC_000001.10 - 241328830	Apr 25, 2020 (154)
45	KOREAN population from KRGDB	NC_000001.10 - 241328830	Apr 25, 2020 (154)
46	Korean Genome Project	NC_000001.11 - 241165530	Apr 25, 2020 (154)
47	Northern Sweden	NC_000001.10 - 241328830	Jul 12, 2019 (153)
48	Qatari	NC_000001.10 - 241328830	Apr 25, 2020 (154)
49	SGDP_PRJ	NC_000001.10 - 241328830	Apr 25, 2020 (154)
50	8.3KJPN	NC_000001.10 - 241328830	Apr 27, 2021 (155)
51	14KJPN	NC_000001.11 - 241165530	Oct 12, 2022 (156)
52	TopMed	NC_000001.11 - 241165530	Apr 27, 2021 (155)
53	ALFA	NC_000001.11 - 241165530	Apr 27, 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)
rs59277612	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11833972592	NC_000001.11:241165529:A:G	NC_000001.11:241165529:A:G	(self)
ss77726755, ss86016608	NC_000001.8:237654870:A:T	NC_000001.11:241165529:A:T	(self)
ss205452675, ss276289544	NC_000001.9:239395452:A:T	NC_000001.11:241165529:A:T	(self)
6222605, 1961029, 1510539, 3802409, 1304768, 1596215, 3281765, 7192392, ss329331364, ss555254568, ss648828610, ss976332502, ss1295342070, ss1574800104, ss1796000315, ss1919554285, ss2624665713, ss2698346329, ss2768157139, ss2988739036, ss3343996966, ss3728019903, ss3747554922, ss3783737224, ss3789342039, ss3794214498, ss3836772068, ss3851264785, ss3896625015, ss5149223085, ss5325895290, ss5627796095, ss5833510835, ss5939646682	NC_000001.10:241328829:A:T	NC_000001.11:241165529:A:T	(self)
8329380, 44519870, 3226319, 11049204, 53144131, 11833972592, ss2171510590, ss3800558564, ss3842185026, ss3946848318, ss4489537796, ss5246404090, ss5520803445, ss5677212100, ss5801796523	NC_000001.11:241165529:A:T	NC_000001.11:241165529:A: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 rs55815136

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

rs55815136