Name: rs113362601
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.

rs113362601

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:163214209 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.035536 (9406/264690, TOPMED)
C=0.038475 (5391/140118, GnomAD)
C=0.03276 (2578/78700, PAGE_STUDY) (+ 11 more)
C=0.04080 (779/19092, ALFA)
C=0.0281 (180/6404, 1000G_30x)
C=0.0282 (141/5008, 1000G)
C=0.0507 (227/4480, Estonian)
C=0.0335 (129/3854, ALSPAC)
C=0.0289 (107/3708, TWINSUK)
C=0.022 (22/998, GoNL)
C=0.043 (26/600, NorthernSweden)
C=0.074 (16/216, Qatari)
G=0.50 (10/20, SGDP_PRJ)
C=0.50 (10/20, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RGS5 : 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	19092	G=0.95920	C=0.04080
European	Sub	14420	G=0.95853	C=0.04147
African	Sub	2974	G=0.9529	C=0.0471
African Others	Sub	114	G=0.965	C=0.035
African American	Sub	2860	G=0.9524	C=0.0476
Asian	Sub	114	G=1.000	C=0.000
East Asian	Sub	88	G=1.00	C=0.00
Other Asian	Sub	26	G=1.00	C=0.00
Latin American 1	Sub	150	G=0.987	C=0.013
Latin American 2	Sub	626	G=0.982	C=0.018
South Asian	Sub	98	G=0.98	C=0.02
Other	Sub	710	G=0.963	C=0.037

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=0.964464	C=0.035536
gnomAD - Genomes	Global	Study-wide	140118	G=0.961525	C=0.038475
gnomAD - Genomes	European	Sub	75894	G=0.96345	C=0.03655
gnomAD - Genomes	African	Sub	41994	G=0.95114	C=0.04886
gnomAD - Genomes	American	Sub	13640	G=0.97221	C=0.02779
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.9693	C=0.0307
gnomAD - Genomes	East Asian	Sub	3122	G=0.9997	C=0.0003
gnomAD - Genomes	Other	Sub	2146	G=0.9613	C=0.0387
The PAGE Study	Global	Study-wide	78700	G=0.96724	C=0.03276
The PAGE Study	AfricanAmerican	Sub	32516	G=0.95295	C=0.04705
The PAGE Study	Mexican	Sub	10810	G=0.97891	C=0.02109
The PAGE Study	Asian	Sub	8318	G=0.9999	C=0.0001
The PAGE Study	PuertoRican	Sub	7918	G=0.9632	C=0.0368
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9905	C=0.0095
The PAGE Study	Cuban	Sub	4230	G=0.9641	C=0.0359
The PAGE Study	Dominican	Sub	3826	G=0.9629	C=0.0371
The PAGE Study	CentralAmerican	Sub	2450	G=0.9678	C=0.0322
The PAGE Study	SouthAmerican	Sub	1982	G=0.9707	C=0.0293
The PAGE Study	NativeAmerican	Sub	1260	G=0.9722	C=0.0278
The PAGE Study	SouthAsian	Sub	856	G=0.978	C=0.022
Allele Frequency Aggregator	Total	Global	19092	G=0.95920	C=0.04080
Allele Frequency Aggregator	European	Sub	14420	G=0.95853	C=0.04147
Allele Frequency Aggregator	African	Sub	2974	G=0.9529	C=0.0471
Allele Frequency Aggregator	Other	Sub	710	G=0.963	C=0.037
Allele Frequency Aggregator	Latin American 2	Sub	626	G=0.982	C=0.018
Allele Frequency Aggregator	Latin American 1	Sub	150	G=0.987	C=0.013
Allele Frequency Aggregator	Asian	Sub	114	G=1.000	C=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=0.98	C=0.02
1000Genomes_30x	Global	Study-wide	6404	G=0.9719	C=0.0281
1000Genomes_30x	African	Sub	1786	G=0.9457	C=0.0543
1000Genomes_30x	Europe	Sub	1266	G=0.9692	C=0.0308
1000Genomes_30x	South Asian	Sub	1202	G=0.9850	C=0.0150
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	G=0.973	C=0.027
1000Genomes	Global	Study-wide	5008	G=0.9718	C=0.0282
1000Genomes	African	Sub	1322	G=0.9440	C=0.0560
1000Genomes	East Asian	Sub	1008	G=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	G=0.9662	C=0.0338
1000Genomes	South Asian	Sub	978	G=0.988	C=0.012
1000Genomes	American	Sub	694	G=0.970	C=0.030
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9493	C=0.0507
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9665	C=0.0335
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9711	C=0.0289
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.978	C=0.022
Northern Sweden	ACPOP	Study-wide	600	G=0.957	C=0.043
Qatari	Global	Study-wide	216	G=0.926	C=0.074
SGDP_PRJ	Global	Study-wide	20	G=0.50	C=0.50

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.163214209G>C
GRCh37.p13 chr 1	NC_000001.10:g.163183999G>C
RGS5 RefSeqGene	NG_027731.2:g.112583C>G

Gene: RGS5, regulator of G protein signaling 5 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RGS5 transcript variant 3	NM_001254748.2:c.-280-458… NM_001254748.2:c.-280-45841C>G	N/A	Intron Variant
RGS5 transcript variant 2	NM_001195303.3:c.	N/A	Genic Upstream Transcript Variant
RGS5 transcript variant 4	NM_001254749.2:c.	N/A	Genic Upstream Transcript Variant
RGS5 transcript variant 1	NM_003617.4:c.	N/A	Genic Upstream Transcript Variant
LOC127814295 transcript variant 23	NR_045630.2:n.	N/A	Genic Downstream 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	G=	C
GRCh38.p14 chr 1	NC_000001.11:g.163214209=	NC_000001.11:g.163214209G>C
GRCh37.p13 chr 1	NC_000001.10:g.163183999=	NC_000001.10:g.163183999G>C
RGS5 RefSeqGene	NG_027731.2:g.112583=	NG_027731.2:g.112583C>G
RGS5 transcript variant 3	NM_001254748.1:c.-280-45841=	NM_001254748.1:c.-280-45841C>G
RGS5 transcript variant 3	NM_001254748.2:c.-280-45841=	NM_001254748.2:c.-280-45841C>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#.

46 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss199162202	Jul 04, 2010 (132)
2	1000GENOMES	ss218682072	Jul 14, 2010 (132)
3	1000GENOMES	ss230754734	Jul 14, 2010 (132)
4	ILLUMINA	ss482124545	May 04, 2012 (137)
5	ILLUMINA	ss483073663	May 04, 2012 (137)
6	ILLUMINA	ss535203100	Sep 08, 2015 (146)
7	SSMP	ss648455027	Apr 25, 2013 (138)
8	ILLUMINA	ss780141188	Sep 08, 2015 (146)
9	ILLUMINA	ss781980279	Sep 08, 2015 (146)
10	ILLUMINA	ss835624568	Sep 08, 2015 (146)
11	EVA-GONL	ss975745840	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1068314394	Aug 21, 2014 (142)
13	1000GENOMES	ss1293166309	Aug 21, 2014 (142)
14	EVA_DECODE	ss1585129179	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1601340978	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1644335011	Apr 01, 2015 (144)
17	HAMMER_LAB	ss1795174448	Sep 08, 2015 (146)
18	WEILL_CORNELL_DGM	ss1918982212	Feb 12, 2016 (147)
19	ILLUMINA	ss1958326684	Feb 12, 2016 (147)
20	HUMAN_LONGEVITY	ss2167018403	Dec 20, 2016 (150)
21	ILLUMINA	ss2632584360	Nov 08, 2017 (151)
22	GNOMAD	ss2762004264	Nov 08, 2017 (151)
23	SWEGEN	ss2987851870	Nov 08, 2017 (151)
24	ILLUMINA	ss3021145450	Nov 08, 2017 (151)
25	CSHL	ss3343738563	Nov 08, 2017 (151)
26	ILLUMINA	ss3626225116	Oct 11, 2018 (152)
27	ILLUMINA	ss3630616688	Oct 11, 2018 (152)
28	ILLUMINA	ss3641620024	Oct 11, 2018 (152)
29	ILLUMINA	ss3651481857	Oct 11, 2018 (152)
30	EGCUT_WGS	ss3655791158	Jul 12, 2019 (153)
31	EVA_DECODE	ss3687901262	Jul 12, 2019 (153)
32	ILLUMINA	ss3725073615	Jul 12, 2019 (153)
33	ACPOP	ss3727537960	Jul 12, 2019 (153)
34	EVA	ss3746881435	Jul 12, 2019 (153)
35	PAGE_CC	ss3770847710	Jul 12, 2019 (153)
36	KHV_HUMAN_GENOMES	ss3799881729	Jul 12, 2019 (153)
37	SGDP_PRJ	ss3850130481	Apr 25, 2020 (154)
38	TOPMED	ss4470415391	Apr 25, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5244501892	Oct 12, 2022 (156)
40	EVA	ss5322429530	Oct 12, 2022 (156)
41	HUGCELL_USP	ss5445066489	Oct 12, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5517933801	Oct 12, 2022 (156)
43	SANFORD_IMAGENETICS	ss5626709710	Oct 12, 2022 (156)
44	EVA	ss5832748420	Oct 12, 2022 (156)
45	EVA	ss5910481981	Oct 12, 2022 (156)
46	EVA	ss5938507452	Oct 12, 2022 (156)
47	1000Genomes	NC_000001.10 - 163183999	Oct 11, 2018 (152)
48	1000Genomes_30x	NC_000001.11 - 163214209	Oct 12, 2022 (156)
49	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 163183999	Oct 11, 2018 (152)
50	Genetic variation in the Estonian population	NC_000001.10 - 163183999	Oct 11, 2018 (152)
51	gnomAD - Genomes	NC_000001.11 - 163214209	Apr 25, 2021 (155)
52	Genome of the Netherlands Release 5	NC_000001.10 - 163183999	Apr 25, 2020 (154)
53	Northern Sweden	NC_000001.10 - 163183999	Jul 12, 2019 (153)
54	The PAGE Study	NC_000001.11 - 163214209	Jul 12, 2019 (153)
55	Qatari	NC_000001.10 - 163183999	Apr 25, 2020 (154)
56	SGDP_PRJ	NC_000001.10 - 163183999	Apr 25, 2020 (154)
57	TopMed	NC_000001.11 - 163214209	Apr 25, 2021 (155)
58	UK 10K study - Twins	NC_000001.10 - 163183999	Oct 11, 2018 (152)
59	ALFA	NC_000001.11 - 163214209	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss199162202, ss482124545, ss1585129179	NC_000001.9:161450622:G:C	NC_000001.11:163214208:G:C	(self)
3966237, 2160395, 1529406, 939131, 822825, 1024142, 2147461, 2160395, ss218682072, ss230754734, ss483073663, ss535203100, ss648455027, ss780141188, ss781980279, ss835624568, ss975745840, ss1068314394, ss1293166309, ss1601340978, ss1644335011, ss1795174448, ss1918982212, ss1958326684, ss2632584360, ss2762004264, ss2987851870, ss3021145450, ss3343738563, ss3626225116, ss3630616688, ss3641620024, ss3651481857, ss3655791158, ss3727537960, ss3746881435, ss3850130481, ss5322429530, ss5626709710, ss5832748420, ss5938507452	NC_000001.10:163183998:G:C	NC_000001.11:163214208:G:C	(self)
5459736, 28798090, 69179, 34021726, 649517304, ss2167018403, ss3687901262, ss3725073615, ss3770847710, ss3799881729, ss4470415391, ss5244501892, ss5445066489, ss5517933801, ss5910481981	NC_000001.11:163214208:G:C	NC_000001.11:163214208:G:C	(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 rs113362601

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

rs113362601