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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.

rs796786

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr1:240839920 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.38822 (48748/125568, TOPMED)
C=0.3767 (11787/31292, GnomAD)
C=0.406 (2032/5008, 1000G) (+ 5 more)
C=0.350 (1570/4480, Estonian)
C=0.363 (1400/3854, ALSPAC)
C=0.365 (1353/3708, TWINSUK)
C=0.43 (261/600, NorthernSweden)
C=0.37 (80/214, 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.240839920C>T
GRCh37.p13 chr 1 NC_000001.10:g.241003220C>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. 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 X4 XM_006711800.4:c. N/A Intron Variant
RGS7 transcript variant X5 XM_011544246.3:c. N/A Intron Variant
RGS7 transcript variant X6 XM_011544247.3: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 X10 XM_017002009.1:c. N/A Intron Variant
RGS7 transcript variant X11 XM_017002011.2:c. N/A Intron Variant
RGS7 transcript variant X12 XM_017002012.2:c. N/A Intron Variant
RGS7 transcript variant X13 XM_017002013.1:c. N/A Intron 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 C=0.38822 T=0.61178
gnomAD - Genomes Global Study-wide 31292 C=0.3767 T=0.6233
gnomAD - Genomes European Sub 18854 C=0.3698 T=0.6302
gnomAD - Genomes African Sub 8668 C=0.373 T=0.627
gnomAD - Genomes East Asian Sub 1550 C=0.443 T=0.557
gnomAD - Genomes Other Sub 1082 C=0.377 T=0.623
gnomAD - Genomes American Sub 848 C=0.40 T=0.60
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.51 T=0.49
1000Genomes Global Study-wide 5008 C=0.406 T=0.594
1000Genomes African Sub 1322 C=0.352 T=0.648
1000Genomes East Asian Sub 1008 C=0.438 T=0.562
1000Genomes Europe Sub 1006 C=0.401 T=0.599
1000Genomes South Asian Sub 978 C=0.48 T=0.52
1000Genomes American Sub 694 C=0.36 T=0.64
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.350 T=0.650
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.363 T=0.637
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.365 T=0.635
Northern Sweden ACPOP Study-wide 600 C=0.43 T=0.56
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.37 T=0.63
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 C= T Note
GRCh38.p12 chr 1 NC_000001.11:g.240839920= NC_000001.11:g.24083992...

NC_000001.11:g.240839920C>T

GRCh37.p13 chr 1 NC_000001.10:g.241003220= NC_000001.10:g.24100322...

NC_000001.10:g.241003220C>T

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#.

102 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss991298 Oct 05, 2000 (86)
2 KWOK ss1814568 Oct 18, 2000 (87)
3 SC_JCM ss2438810 Nov 09, 2000 (92)
4 TSC-CSHL ss2914404 Jan 22, 2001 (92)
5 SC_SNP ss13017520 Dec 05, 2003 (119)
6 WI_SSAHASNP ss14421500 Dec 05, 2003 (123)
7 ABI ss41343533 Mar 15, 2006 (126)
8 ILLUMINA ss67854042 Nov 30, 2006 (127)
9 ILLUMINA ss68005654 Nov 30, 2006 (127)
10 ILLUMINA ss68291708 Dec 12, 2006 (127)
11 PERLEGEN ss68798939 May 17, 2007 (127)
12 ILLUMINA ss70961576 May 25, 2008 (130)
13 ILLUMINA ss71570226 May 17, 2007 (127)
14 ILLUMINA ss75585694 Dec 07, 2007 (129)
15 AFFY ss76727135 Dec 07, 2007 (129)
16 KRIBB_YJKIM ss83566049 Dec 15, 2007 (130)
17 BCMHGSC_JDW ss88031744 Mar 23, 2008 (129)
18 BGI ss102837983 Dec 01, 2009 (131)
19 1000GENOMES ss109090125 Jan 23, 2009 (130)
20 1000GENOMES ss112034508 Jan 25, 2009 (130)
21 ILLUMINA-UK ss119270716 Feb 15, 2009 (130)
22 ILLUMINA ss154459663 Dec 01, 2009 (131)
23 GMI ss156500598 Dec 01, 2009 (131)
24 ILLUMINA ss159634275 Dec 01, 2009 (131)
25 ILLUMINA ss160934407 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss165535723 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss165934276 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss167581641 Jul 04, 2010 (132)
29 ILLUMINA ss174644640 Jul 04, 2010 (132)
30 BUSHMAN ss199836124 Jul 04, 2010 (132)
31 BCM-HGSC-SUB ss205226403 Jul 04, 2010 (132)
32 1000GENOMES ss218977374 Jul 14, 2010 (132)
33 1000GENOMES ss230974129 Jul 14, 2010 (132)
34 1000GENOMES ss238574041 Jul 15, 2010 (132)
35 BL ss253921487 May 09, 2011 (134)
36 GMI ss276288534 May 04, 2012 (137)
37 GMI ss284260426 Apr 25, 2013 (138)
38 ILLUMINA ss481735181 May 04, 2012 (137)
39 ILLUMINA ss481766836 May 04, 2012 (137)
40 ILLUMINA ss482731797 Sep 08, 2015 (146)
41 ILLUMINA ss485662343 May 04, 2012 (137)
42 ILLUMINA ss537537411 Sep 08, 2015 (146)
43 TISHKOFF ss555252548 Apr 25, 2013 (138)
44 SSMP ss648826727 Apr 25, 2013 (138)
45 ILLUMINA ss778621508 Sep 08, 2015 (146)
46 ILLUMINA ss783276735 Sep 08, 2015 (146)
47 ILLUMINA ss784229807 Sep 08, 2015 (146)
48 ILLUMINA ss832537829 Sep 08, 2015 (146)
49 ILLUMINA ss833145149 Jul 12, 2019 (153)
50 ILLUMINA ss834079015 Sep 08, 2015 (146)
51 EVA-GONL ss976329810 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1068741949 Aug 21, 2014 (142)
53 1000GENOMES ss1295332435 Aug 21, 2014 (142)
54 HAMMER_LAB ss1397278161 Sep 08, 2015 (146)
55 DDI ss1426166913 Apr 01, 2015 (144)
56 EVA_GENOME_DK ss1574798666 Apr 01, 2015 (144)
57 EVA_DECODE ss1585734186 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1602506467 Apr 01, 2015 (144)
59 EVA_UK10K_TWINSUK ss1645500500 Apr 01, 2015 (144)
60 EVA_SVP ss1712419815 Apr 01, 2015 (144)
61 ILLUMINA ss1751908998 Sep 08, 2015 (146)
62 HAMMER_LAB ss1795995318 Sep 08, 2015 (146)
63 WEILL_CORNELL_DGM ss1919551409 Feb 12, 2016 (147)
64 GENOMED ss1967017676 Jul 19, 2016 (147)
65 JJLAB ss2020303344 Sep 14, 2016 (149)
66 USC_VALOUEV ss2148341269 Nov 08, 2017 (151)
67 HUMAN_LONGEVITY ss2171490886 Dec 20, 2016 (150)
68 TOPMED ss2334143232 Dec 20, 2016 (150)
69 SYSTEMSBIOZJU ss2624665083 Nov 08, 2017 (151)
70 ILLUMINA ss2632652948 Nov 08, 2017 (151)
71 GRF ss2698344745 Nov 08, 2017 (151)
72 ILLUMINA ss2710698963 Nov 08, 2017 (151)
73 GNOMAD ss2768131029 Nov 08, 2017 (151)
74 SWEGEN ss2988735208 Nov 08, 2017 (151)
75 BIOINF_KMB_FNS_UNIBA ss3023914019 Nov 08, 2017 (151)
76 TOPMED ss3107775219 Nov 08, 2017 (151)
77 CSHL ss3343995761 Nov 08, 2017 (151)
78 ILLUMINA ss3626349915 Oct 11, 2018 (152)
79 ILLUMINA ss3630681633 Oct 11, 2018 (152)
80 ILLUMINA ss3632932326 Oct 11, 2018 (152)
81 ILLUMINA ss3633628693 Oct 11, 2018 (152)
82 ILLUMINA ss3634382264 Oct 11, 2018 (152)
83 ILLUMINA ss3635321640 Oct 11, 2018 (152)
84 ILLUMINA ss3636061532 Oct 11, 2018 (152)
85 ILLUMINA ss3637072202 Oct 11, 2018 (152)
86 ILLUMINA ss3637824722 Oct 11, 2018 (152)
87 ILLUMINA ss3638927518 Oct 11, 2018 (152)
88 ILLUMINA ss3639775393 Oct 11, 2018 (152)
89 ILLUMINA ss3640089617 Oct 11, 2018 (152)
90 ILLUMINA ss3642830174 Oct 11, 2018 (152)
91 ILLUMINA ss3643828437 Oct 11, 2018 (152)
92 URBANLAB ss3646926267 Oct 11, 2018 (152)
93 EGCUT_WGS ss3656696383 Jul 12, 2019 (153)
94 EVA_DECODE ss3688973739 Jul 12, 2019 (153)
95 ACPOP ss3728017671 Jul 12, 2019 (153)
96 ILLUMINA ss3744683164 Jul 12, 2019 (153)
97 EVA ss3747551916 Jul 12, 2019 (153)
98 ILLUMINA ss3772183932 Jul 12, 2019 (153)
99 PACBIO ss3783736567 Jul 12, 2019 (153)
100 PACBIO ss3789341493 Jul 12, 2019 (153)
101 PACBIO ss3794213952 Jul 12, 2019 (153)
102 KHV_HUMAN_GENOMES ss3800555378 Jul 12, 2019 (153)
103 1000Genomes NC_000001.10 - 241003220 Oct 11, 2018 (152)
104 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 241003220 Oct 11, 2018 (152)
105 Genetic variation in the Estonian population NC_000001.10 - 241003220 Oct 11, 2018 (152)
106 gnomAD - Genomes NC_000001.10 - 241003220 Jul 12, 2019 (153)
107 Northern Sweden NC_000001.10 - 241003220 Jul 12, 2019 (153)
108 TopMed NC_000001.11 - 240839920 Oct 11, 2018 (152)
109 UK 10K study - Twins NC_000001.10 - 241003220 Oct 11, 2018 (152)
110 A Vietnamese Genetic Variation Database NC_000001.10 - 241003220 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)
rs1622573 Jan 18, 2001 (92)
rs10317188 Sep 24, 2004 (123)
rs59563823 May 25, 2008 (130)
rs386614397 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638927518, ss3639775393, ss3643828437 NC_000001.8:237329260:C:T NC_000001.11:240839919:C:T (self)
ss76727135, ss88031744, ss109090125, ss112034508, ss119270716, ss165535723, ss165934276, ss167581641, ss199836124, ss205226403, ss253921487, ss276288534, ss284260426, ss481735181, ss1397278161, ss1585734186, ss1712419815, ss3642830174 NC_000001.9:239069842:C:T NC_000001.11:240839919:C:T (self)
6212502, 3442525, 2434631, 16955388, 1302536, 3442525, 750804, ss218977374, ss230974129, ss238574041, ss481766836, ss482731797, ss485662343, ss537537411, ss555252548, ss648826727, ss778621508, ss783276735, ss784229807, ss832537829, ss833145149, ss834079015, ss976329810, ss1068741949, ss1295332435, ss1426166913, ss1574798666, ss1602506467, ss1645500500, ss1751908998, ss1795995318, ss1919551409, ss1967017676, ss2020303344, ss2148341269, ss2334143232, ss2624665083, ss2632652948, ss2698344745, ss2710698963, ss2768131029, ss2988735208, ss3343995761, ss3626349915, ss3630681633, ss3632932326, ss3633628693, ss3634382264, ss3635321640, ss3636061532, ss3637072202, ss3637824722, ss3640089617, ss3656696383, ss3728017671, ss3744683164, ss3747551916, ss3772183932, ss3783736567, ss3789341493, ss3794213952 NC_000001.10:241003219:C:T NC_000001.11:240839919:C:T (self)
33359671, ss2171490886, ss3023914019, ss3107775219, ss3646926267, ss3688973739, ss3800555378 NC_000001.11:240839919:C:T NC_000001.11:240839919:C:T (self)
ss13017520 NT_004836.14:5746578:C:T NC_000001.11:240839919:C:T (self)
ss991298, ss1814568, ss2438810, ss2914404, ss14421500, ss41343533, ss67854042, ss68005654, ss68291708, ss68798939, ss70961576, ss71570226, ss75585694, ss83566049, ss102837983, ss154459663, ss156500598, ss159634275, ss160934407, ss174644640 NT_167186.1:34520998:C:T NC_000001.11:240839919:C:T (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 rs796786

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