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dbSNP Short Genetic Variations

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 Aliases 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.

rs4359023

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr1:241240197 (GRCh38.p12) 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>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.25983 (32626/125568, TOPMED)
A=0.2512 (19582/77966, PAGE_STUDY)
A=0.2687 (8422/31342, GnomAD) (+ 6 more)
A=0.246 (1231/5008, 1000G)
A=0.342 (1534/4480, Estonian)
A=0.308 (1188/3854, ALSPAC)
A=0.294 (1092/3708, TWINSUK)
A=0.23 (140/600, NorthernSweden)
A=0.29 (61/214, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RGS7 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
Help

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.p12 chr 1 NC_000001.11:g.241240197G>A
GRCh37.p13 chr 1 NC_000001.10:g.241403497G>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. N/A Intron Variant
RGS7 transcript variant 3 NM_001282775.2:c. N/A Intron Variant
RGS7 transcript variant 4 NM_001282778.2:c. N/A Intron Variant
RGS7 transcript variant 5 NM_001350113.1:c. N/A Intron Variant
RGS7 transcript variant 6 NM_001350114.1:c. N/A Intron Variant
RGS7 transcript variant 7 NM_001350115.1:c. N/A Intron Variant
RGS7 transcript variant 8 NM_001350116.1:c. N/A Intron Variant
RGS7 transcript variant 9 NM_001364886.1:c. N/A Intron Variant
RGS7 transcript variant 1 NM_002924.6:c. N/A Intron Variant
RGS7 transcript variant X2 XM_017002001.2:c. N/A Intron Variant
RGS7 transcript variant X3 XM_017002002.2:c. N/A Intron Variant
RGS7 transcript variant X7 XM_017002003.2:c. N/A Intron Variant
RGS7 transcript variant X8 XM_017002004.2:c. N/A Intron Variant
RGS7 transcript variant X9 XM_017002005.2:c. N/A Intron Variant
RGS7 transcript variant X4 XM_006711800.4:c. N/A Genic Upstream Transcript Variant
RGS7 transcript variant X5 XM_011544246.3:c. N/A Genic Upstream Transcript Variant
RGS7 transcript variant X6 XM_011544247.3:c. N/A Genic Upstream Transcript Variant
RGS7 transcript variant X10 XM_017002009.1:c. N/A Genic Upstream Transcript Variant
RGS7 transcript variant X11 XM_017002011.2:c. N/A Genic Upstream Transcript Variant
RGS7 transcript variant X12 XM_017002012.2:c. N/A Genic Upstream Transcript Variant
RGS7 transcript variant X13 XM_017002013.1:c. N/A Genic Upstream Transcript Variant
Help

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
Help

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 125568 G=0.74017 A=0.25983
The PAGE Study Global Study-wide 77966 G=0.7488 A=0.2512
The PAGE Study AfricanAmerican Sub 32240 G=0.8043 A=0.1957
The PAGE Study Mexican Sub 10696 G=0.7401 A=0.2599
The PAGE Study Asian Sub 8254 G=0.532 A=0.468
The PAGE Study PuertoRican Sub 7834 G=0.728 A=0.272
The PAGE Study NativeHawaiian Sub 4506 G=0.783 A=0.217
The PAGE Study Cuban Sub 4180 G=0.718 A=0.282
The PAGE Study Dominican Sub 3792 G=0.769 A=0.231
The PAGE Study CentralAmerican Sub 2420 G=0.776 A=0.224
The PAGE Study SouthAmerican Sub 1954 G=0.796 A=0.204
The PAGE Study NativeAmerican Sub 1242 G=0.733 A=0.267
The PAGE Study SouthAsian Sub 848 G=0.77 A=0.23
gnomAD - Genomes Global Study-wide 31342 G=0.7313 A=0.2687
gnomAD - Genomes European Sub 18864 G=0.6987 A=0.3013
gnomAD - Genomes African Sub 8702 G=0.811 A=0.189
gnomAD - Genomes East Asian Sub 1554 G=0.671 A=0.329
gnomAD - Genomes Other Sub 1084 G=0.727 A=0.273
gnomAD - Genomes American Sub 848 G=0.76 A=0.24
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.72 A=0.28
1000Genomes Global Study-wide 5008 G=0.754 A=0.246
1000Genomes African Sub 1322 G=0.826 A=0.174
1000Genomes East Asian Sub 1008 G=0.637 A=0.363
1000Genomes Europe Sub 1006 G=0.743 A=0.257
1000Genomes South Asian Sub 978 G=0.80 A=0.20
1000Genomes American Sub 694 G=0.74 A=0.26
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.658 A=0.342
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.692 A=0.308
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.706 A=0.294
Northern Sweden ACPOP Study-wide 600 G=0.77 A=0.23
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.71 A=0.29
Help

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= A Note
GRCh38.p12 chr 1 NC_000001.11:g.241240197= NC_000001.11:g.24124019...

NC_000001.11:g.241240197G>A

GRCh37.p13 chr 1 NC_000001.10:g.241403497= NC_000001.10:g.24140349...

NC_000001.10:g.241403497G>A

Help

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#.

108 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss5805083 Feb 20, 2003 (111)
2 CSHL-HAPMAP ss16457921 Feb 27, 2004 (120)
3 SSAHASNP ss20570001 Apr 05, 2004 (121)
4 ABI ss44043262 Mar 15, 2006 (126)
5 AFFY ss66472895 Nov 30, 2006 (127)
6 ILLUMINA ss67329673 Nov 30, 2006 (127)
7 ILLUMINA ss67730056 Nov 30, 2006 (127)
8 ILLUMINA ss68228075 Dec 12, 2006 (127)
9 PERLEGEN ss68799091 May 17, 2007 (127)
10 ILLUMINA ss70801324 May 25, 2008 (130)
11 ILLUMINA ss71380207 May 17, 2007 (127)
12 ILLUMINA ss75597984 Dec 06, 2007 (129)
13 AFFY ss76281636 Dec 06, 2007 (129)
14 HGSV ss82196462 Dec 15, 2007 (130)
15 HGSV ss82359164 Dec 15, 2007 (130)
16 KRIBB_YJKIM ss84256462 Dec 15, 2007 (130)
17 BCMHGSC_JDW ss88032782 Mar 23, 2008 (129)
18 HUMANGENOME_JCVI ss99301855 Feb 05, 2009 (130)
19 BGI ss102838182 Dec 01, 2009 (131)
20 1000GENOMES ss109093009 Jan 23, 2009 (130)
21 1000GENOMES ss112040287 Jan 25, 2009 (130)
22 ILLUMINA-UK ss119272039 Feb 15, 2009 (130)
23 ENSEMBL ss131767673 Dec 01, 2009 (131)
24 ENSEMBL ss138185222 Dec 01, 2009 (131)
25 ILLUMINA ss154291449 Dec 01, 2009 (131)
26 ILLUMINA ss159468405 Dec 01, 2009 (131)
27 ILLUMINA ss160674767 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss165542919 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss165936022 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss167582428 Jul 04, 2010 (132)
31 AFFY ss173111769 Jul 04, 2010 (132)
32 ILLUMINA ss173720694 Jul 04, 2010 (132)
33 BUSHMAN ss199840509 Jul 04, 2010 (132)
34 1000GENOMES ss218979253 Jul 14, 2010 (132)
35 1000GENOMES ss230975429 Jul 14, 2010 (132)
36 1000GENOMES ss238574968 Jul 15, 2010 (132)
37 BL ss253923079 May 09, 2011 (134)
38 GMI ss276289826 May 04, 2012 (137)
39 GMI ss284260910 Apr 25, 2013 (138)
40 PJP ss290771197 May 09, 2011 (134)
41 ILLUMINA ss480930941 May 04, 2012 (137)
42 ILLUMINA ss480950464 May 04, 2012 (137)
43 ILLUMINA ss481913616 Sep 08, 2015 (146)
44 ILLUMINA ss485260489 May 04, 2012 (137)
45 ILLUMINA ss537230206 Sep 08, 2015 (146)
46 TISHKOFF ss555255003 Apr 25, 2013 (138)
47 SSMP ss648829071 Apr 25, 2013 (138)
48 ILLUMINA ss778906689 Sep 08, 2015 (146)
49 ILLUMINA ss783076189 Sep 08, 2015 (146)
50 ILLUMINA ss784033905 Sep 08, 2015 (146)
51 ILLUMINA ss832334415 Sep 08, 2015 (146)
52 ILLUMINA ss832979888 Jul 12, 2019 (153)
53 ILLUMINA ss834368000 Sep 08, 2015 (146)
54 EVA-GONL ss976333146 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1068744618 Aug 21, 2014 (142)
56 1000GENOMES ss1295344223 Aug 21, 2014 (142)
57 DDI ss1426168058 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1574800476 Apr 01, 2015 (144)
59 EVA_DECODE ss1585737406 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1602512659 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1645506692 Apr 01, 2015 (144)
62 EVA_SVP ss1712420105 Apr 01, 2015 (144)
63 ILLUMINA ss1751909179 Sep 08, 2015 (146)
64 WEILL_CORNELL_DGM ss1919554932 Feb 12, 2016 (147)
65 ILLUMINA ss1946028633 Feb 12, 2016 (147)
66 ILLUMINA ss1958373857 Feb 12, 2016 (147)
67 GENOMED ss1967018531 Jul 19, 2016 (147)
68 JJLAB ss2020305111 Sep 14, 2016 (149)
69 USC_VALOUEV ss2148343112 Dec 20, 2016 (150)
70 HUMAN_LONGEVITY ss2171514906 Dec 20, 2016 (150)
71 SYSTEMSBIOZJU ss2624665905 Nov 08, 2017 (151)
72 ILLUMINA ss2632653430 Nov 08, 2017 (151)
73 GRF ss2698346775 Nov 08, 2017 (151)
74 ILLUMINA ss2710699041 Nov 08, 2017 (151)
75 GNOMAD ss2768163137 Nov 08, 2017 (151)
76 SWEGEN ss2988739996 Nov 08, 2017 (151)
77 ILLUMINA ss3021198456 Nov 08, 2017 (151)
78 BIOINF_KMB_FNS_UNIBA ss3023914974 Nov 08, 2017 (151)
79 TOPMED ss3107848202 Nov 08, 2017 (151)
80 CSHL ss3343997318 Nov 08, 2017 (151)
81 ILLUMINA ss3625570520 Oct 11, 2018 (152)
82 ILLUMINA ss3626350644 Oct 11, 2018 (152)
83 ILLUMINA ss3630682111 Oct 11, 2018 (152)
84 ILLUMINA ss3632932480 Oct 11, 2018 (152)
85 ILLUMINA ss3633628852 Oct 11, 2018 (152)
86 ILLUMINA ss3634382421 Oct 11, 2018 (152)
87 ILLUMINA ss3635321796 Oct 11, 2018 (152)
88 ILLUMINA ss3636061722 Oct 11, 2018 (152)
89 ILLUMINA ss3637072358 Oct 11, 2018 (152)
90 ILLUMINA ss3637824924 Oct 11, 2018 (152)
91 ILLUMINA ss3638927642 Oct 11, 2018 (152)
92 ILLUMINA ss3639775459 Oct 11, 2018 (152)
93 ILLUMINA ss3640089774 Oct 11, 2018 (152)
94 ILLUMINA ss3642830358 Oct 11, 2018 (152)
95 ILLUMINA ss3643828498 Oct 11, 2018 (152)
96 ILLUMINA ss3644524642 Oct 11, 2018 (152)
97 URBANLAB ss3646927249 Oct 11, 2018 (152)
98 ILLUMINA ss3651544592 Oct 11, 2018 (152)
99 EGCUT_WGS ss3656701285 Jul 12, 2019 (153)
100 EVA_DECODE ss3688979811 Jul 12, 2019 (153)
101 ILLUMINA ss3725122045 Jul 12, 2019 (153)
102 ACPOP ss3728020559 Jul 12, 2019 (153)
103 ILLUMINA ss3744063646 Jul 12, 2019 (153)
104 ILLUMINA ss3744683320 Jul 12, 2019 (153)
105 EVA ss3747555656 Jul 12, 2019 (153)
106 PAGE_CC ss3770885095 Jul 12, 2019 (153)
107 ILLUMINA ss3772184088 Jul 12, 2019 (153)
108 KHV_HUMAN_GENOMES ss3800559307 Jul 12, 2019 (153)
109 1000Genomes NC_000001.10 - 241403497 Oct 11, 2018 (152)
110 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 241403497 Oct 11, 2018 (152)
111 Genetic variation in the Estonian population NC_000001.10 - 241403497 Oct 11, 2018 (152)
112 gnomAD - Genomes NC_000001.10 - 241403497 Jul 12, 2019 (153)
113 Northern Sweden NC_000001.10 - 241403497 Jul 12, 2019 (153)
114 The PAGE Study NC_000001.11 - 241240197 Jul 12, 2019 (153)
115 TopMed NC_000001.11 - 241240197 Oct 11, 2018 (152)
116 UK 10K study - Twins NC_000001.10 - 241403497 Oct 11, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000001.10 - 241403497 Jul 12, 2019 (153)
Help

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)
rs59977419 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss82196462, ss82359164, ss3638927642, ss3639775459, ss3643828498 NC_000001.8:237729537:G:A NC_000001.11:241240196:G:A (self)
ss88032782, ss109093009, ss112040287, ss119272039, ss165542919, ss165936022, ss167582428, ss199840509, ss253923079, ss276289826, ss284260910, ss290771197, ss480930941, ss1585737406, ss1712420105, ss3642830358 NC_000001.9:239470119:G:A NC_000001.11:241240196:G:A (self)
6224856, 3449452, 2439533, 16987748, 1305424, 3449452, 752348, ss218979253, ss230975429, ss238574968, ss480950464, ss481913616, ss485260489, ss537230206, ss555255003, ss648829071, ss778906689, ss783076189, ss784033905, ss832334415, ss832979888, ss834368000, ss976333146, ss1068744618, ss1295344223, ss1426168058, ss1574800476, ss1602512659, ss1645506692, ss1751909179, ss1919554932, ss1946028633, ss1958373857, ss1967018531, ss2020305111, ss2148343112, ss2624665905, ss2632653430, ss2698346775, ss2710699041, ss2768163137, ss2988739996, ss3021198456, ss3343997318, ss3625570520, ss3626350644, ss3630682111, ss3632932480, ss3633628852, ss3634382421, ss3635321796, ss3636061722, ss3637072358, ss3637824924, ss3640089774, ss3644524642, ss3651544592, ss3656701285, ss3728020559, ss3744063646, ss3744683320, ss3747555656, ss3772184088 NC_000001.10:241403496:G:A NC_000001.11:241240196:G:A (self)
106564, 33420766, ss2171514906, ss3023914974, ss3107848202, ss3646927249, ss3688979811, ss3725122045, ss3770885095, ss3800559307 NC_000001.11:241240196:G:A NC_000001.11:241240196:G:A (self)
ss16457921, ss20570001 NT_004836.15:6161285:G:A NC_000001.11:241240196:G:A (self)
ss5805083, ss44043262, ss66472895, ss67329673, ss67730056, ss68228075, ss68799091, ss70801324, ss71380207, ss75597984, ss76281636, ss84256462, ss99301855, ss102838182, ss131767673, ss138185222, ss154291449, ss159468405, ss160674767, ss173111769, ss173720694 NT_167186.1:34921275:G:A NC_000001.11:241240196:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs4359023

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.

Software version is: 2.0.1.post308+0fe9b3b