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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.

rs195778

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr1:240926853 (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>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.30786 (38657/125568, TOPMED)
T=0.3174 (9942/31324, GnomAD)
T=0.275 (1378/5008, 1000G) (+ 5 more)
T=0.431 (1930/4480, Estonian)
T=0.393 (1513/3854, ALSPAC)
T=0.400 (1485/3708, TWINSUK)
C=0.45 (272/600, NorthernSweden)
T=0.26 (56/214, 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.240926853C>A
GRCh38.p12 chr 1 NC_000001.11:g.240926853C>T
GRCh37.p13 chr 1 NC_000001.10:g.241090153C>A
GRCh37.p13 chr 1 NC_000001.10:g.241090153C>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=0.69214 T=0.30786
gnomAD - Genomes Global Study-wide 31324 C=0.6826 T=0.3174
gnomAD - Genomes European Sub 18860 C=0.5843 T=0.4157
gnomAD - Genomes African Sub 8700 C=0.922 T=0.078
gnomAD - Genomes East Asian Sub 1542 C=0.680 T=0.320
gnomAD - Genomes Other Sub 1084 C=0.609 T=0.391
gnomAD - Genomes American Sub 848 C=0.57 T=0.43
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.51 T=0.49
1000Genomes Global Study-wide 5008 C=0.725 T=0.275
1000Genomes African Sub 1322 C=0.970 T=0.030
1000Genomes East Asian Sub 1008 C=0.679 T=0.321
1000Genomes Europe Sub 1006 C=0.581 T=0.419
1000Genomes South Asian Sub 978 C=0.67 T=0.33
1000Genomes American Sub 694 C=0.61 T=0.39
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.569 T=0.431
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.607 T=0.393
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.600 T=0.400
Northern Sweden ACPOP Study-wide 600 C=0.45 T=0.55
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.74 T=0.26
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= A T Note
GRCh38.p12 chr 1 NC_000001.11:g.24...

NC_000001.11:g.240926853=

NC_000001.11:g.24...

NC_000001.11:g.240926853C>A

NC_000001.11:g.24...

NC_000001.11:g.240926853C>T

GRCh37.p13 chr 1 NC_000001.10:g.24...

NC_000001.10:g.241090153=

NC_000001.10:g.24...

NC_000001.10:g.241090153C>A

NC_000001.10:g.24...

NC_000001.10:g.241090153C>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#.

80 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss257759 Jul 12, 2000 (79)
2 SC_JCM ss505212 Jul 16, 2000 (80)
3 KWOK ss1027790 Oct 04, 2000 (86)
4 KWOK ss1825021 Oct 18, 2000 (87)
5 PERLEGEN ss24284408 Sep 20, 2004 (123)
6 ABI ss43949382 Mar 15, 2006 (126)
7 PERLEGEN ss68798961 May 17, 2007 (127)
8 ILLUMINA ss75025777 Dec 07, 2007 (129)
9 BCMHGSC_JDW ss88031932 Mar 23, 2008 (129)
10 HUMANGENOME_JCVI ss99301580 Feb 06, 2009 (130)
11 1000GENOMES ss109090759 Jan 23, 2009 (130)
12 KRIBB_YJKIM ss119343616 Dec 01, 2009 (131)
13 ENSEMBL ss138184781 Dec 01, 2009 (131)
14 ENSEMBL ss144169835 Dec 01, 2009 (131)
15 ILLUMINA ss160481608 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss165934630 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss167581847 Jul 04, 2010 (132)
18 ILLUMINA ss173012191 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss205118171 Jul 04, 2010 (132)
20 1000GENOMES ss230974358 Jul 14, 2010 (132)
21 1000GENOMES ss238574196 Jul 15, 2010 (132)
22 BL ss253921831 May 09, 2011 (134)
23 GMI ss276288762 May 04, 2012 (137)
24 GMI ss284260553 Apr 25, 2013 (138)
25 PJP ss290770620 May 09, 2011 (134)
26 ILLUMINA ss480359895 May 04, 2012 (137)
27 ILLUMINA ss480371976 May 04, 2012 (137)
28 ILLUMINA ss481141830 Sep 08, 2015 (146)
29 ILLUMINA ss484977519 May 04, 2012 (137)
30 ILLUMINA ss537014865 Sep 08, 2015 (146)
31 SSMP ss648827253 Apr 25, 2013 (138)
32 ILLUMINA ss778474227 Sep 08, 2015 (146)
33 ILLUMINA ss782935068 Sep 08, 2015 (146)
34 ILLUMINA ss783897805 Sep 08, 2015 (146)
35 ILLUMINA ss832190573 Sep 08, 2015 (146)
36 ILLUMINA ss833930035 Sep 08, 2015 (146)
37 EVA-GONL ss976330469 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1068742406 Aug 21, 2014 (142)
39 1000GENOMES ss1295334923 Aug 21, 2014 (142)
40 HAMMER_LAB ss1397278177 Sep 08, 2015 (146)
41 DDI ss1426167209 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1574798957 Apr 01, 2015 (144)
43 EVA_DECODE ss1585734784 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1602507689 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1645501722 Apr 01, 2015 (144)
46 EVA_SVP ss1712419862 Apr 01, 2015 (144)
47 ILLUMINA ss1751909024 Sep 08, 2015 (146)
48 WEILL_CORNELL_DGM ss1919552104 Feb 12, 2016 (147)
49 GENOMED ss1967017834 Jul 19, 2016 (147)
50 JJLAB ss2020303681 Sep 14, 2016 (149)
51 USC_VALOUEV ss2148341607 Nov 08, 2017 (151)
52 HUMAN_LONGEVITY ss2171495891 Dec 20, 2016 (150)
53 TOPMED ss2334148392 Dec 20, 2016 (150)
54 SYSTEMSBIOZJU ss2624665252 Nov 08, 2017 (151)
55 ILLUMINA ss2632653021 Nov 08, 2017 (151)
56 GRF ss2698345058 Nov 08, 2017 (151)
57 GNOMAD ss2768137755 Nov 08, 2017 (151)
58 SWEGEN ss2988736156 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3023914213 Nov 08, 2017 (151)
60 TOPMED ss3107790345 Nov 08, 2017 (151)
61 CSHL ss3343996094 Nov 08, 2017 (151)
62 ILLUMINA ss3626350035 Oct 11, 2018 (152)
63 ILLUMINA ss3630681705 Oct 11, 2018 (152)
64 ILLUMINA ss3632932350 Oct 11, 2018 (152)
65 ILLUMINA ss3633628718 Oct 11, 2018 (152)
66 ILLUMINA ss3634382289 Oct 11, 2018 (152)
67 ILLUMINA ss3635321665 Oct 11, 2018 (152)
68 ILLUMINA ss3636061562 Oct 11, 2018 (152)
69 ILLUMINA ss3637072227 Oct 11, 2018 (152)
70 ILLUMINA ss3637824755 Oct 11, 2018 (152)
71 ILLUMINA ss3640089642 Oct 11, 2018 (152)
72 ILLUMINA ss3642830206 Oct 11, 2018 (152)
73 URBANLAB ss3646926547 Oct 11, 2018 (152)
74 EGCUT_WGS ss3656697356 Jul 12, 2019 (153)
75 EVA_DECODE ss3688974852 Jul 12, 2019 (153)
76 ACPOP ss3728018200 Jul 12, 2019 (153)
77 ILLUMINA ss3744683189 Jul 12, 2019 (153)
78 EVA ss3747552707 Jul 12, 2019 (153)
79 ILLUMINA ss3772183957 Jul 12, 2019 (153)
80 KHV_HUMAN_GENOMES ss3800556104 Jul 12, 2019 (153)
81 1000Genomes NC_000001.10 - 241090153 Oct 11, 2018 (152)
82 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 241090153 Oct 11, 2018 (152)
83 Genetic variation in the Estonian population NC_000001.10 - 241090153 Oct 11, 2018 (152)
84 gnomAD - Genomes NC_000001.10 - 241090153 Jul 12, 2019 (153)
85 Northern Sweden NC_000001.10 - 241090153 Jul 12, 2019 (153)
86 TopMed NC_000001.11 - 240926853 Oct 11, 2018 (152)
87 UK 10K study - Twins NC_000001.10 - 241090153 Oct 11, 2018 (152)
88 A Vietnamese Genetic Variation Database NC_000001.10 - 241090153 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)
rs17698862 Oct 07, 2004 (123)
rs386550424 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2171495891 NC_000001.11:240926852:C:A NC_000001.11:240926852:C:A (self)
ss88031932, ss109090759, ss165934630, ss167581847, ss205118171, ss253921831, ss276288762, ss284260553, ss290770620, ss480359895, ss1397278177, ss1585734784, ss1712419862, ss3642830206 NC_000001.9:239156775:C:T NC_000001.11:240926852:C:T (self)
6215099, 3443881, 2435604, 16962068, 1303065, 3443881, 751055, ss230974358, ss238574196, ss480371976, ss481141830, ss484977519, ss537014865, ss648827253, ss778474227, ss782935068, ss783897805, ss832190573, ss833930035, ss976330469, ss1068742406, ss1295334923, ss1426167209, ss1574798957, ss1602507689, ss1645501722, ss1751909024, ss1919552104, ss1967017834, ss2020303681, ss2148341607, ss2334148392, ss2624665252, ss2632653021, ss2698345058, ss2768137755, ss2988736156, ss3343996094, ss3626350035, ss3630681705, ss3632932350, ss3633628718, ss3634382289, ss3635321665, ss3636061562, ss3637072227, ss3637824755, ss3640089642, ss3656697356, ss3728018200, ss3744683189, ss3747552707, ss3772183957 NC_000001.10:241090152:C:T NC_000001.11:240926852:C:T (self)
33372781, ss2171495891, ss3023914213, ss3107790345, ss3646926547, ss3688974852, ss3800556104 NC_000001.11:240926852:C:T NC_000001.11:240926852:C:T (self)
ss257759, ss505212, ss1027790, ss1825021, ss24284408, ss43949382, ss68798961, ss75025777, ss99301580, ss119343616, ss138184781, ss144169835, ss160481608, ss173012191 NT_167186.1:34607931:C:T NC_000001.11:240926852: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 rs195778

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