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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs268786

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr1:237192685 (GRCh38.p7) 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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.05769 (7244/125568, TOPMED)
C=0.0536 (1661/30974, GnomAD)
C=0.085 (427/5008, 1000G) (+ 2 more)
C=0.006 (25/3854, ALSPAC)
C=0.004 (14/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RYR2 : 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.p7 chr 1 NC_000001.11:g.237192685C>A
GRCh38.p7 chr 1 NC_000001.11:g.237192685C>G
GRCh37.p13 chr 1 NC_000001.10:g.237355985C>A
GRCh37.p13 chr 1 NC_000001.10:g.237355985C>G
RYR2 RefSeqGene NG_008799.2:g.155284C>A
RYR2 RefSeqGene NG_008799.2:g.155284C>G
Gene: RYR2, ryanodine receptor 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RYR2 transcript NM_001035.2:c. N/A Intron Variant
RYR2 transcript variant X1 XM_006711802.3:c. N/A Intron Variant
RYR2 transcript variant X2 XM_006711803.3:c. N/A Intron Variant
RYR2 transcript variant X4 XM_006711804.3:c. N/A Intron Variant
RYR2 transcript variant X5 XM_006711805.3:c. N/A Intron Variant
RYR2 transcript variant X6 XM_006711806.3:c. N/A Intron Variant
RYR2 transcript variant X7 XM_006711807.3:c. N/A Intron Variant
RYR2 transcript variant X8 XM_006711808.3:c. N/A Intron Variant
RYR2 transcript variant X10 XM_006711809.3:c. N/A Intron Variant
RYR2 transcript variant X11 XM_006711810.3:c. N/A Intron Variant
RYR2 transcript variant X3 XM_017002028.1:c. N/A Intron Variant
RYR2 transcript variant X9 XR_949152.2:n. 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
Trans-Omics for Precision Medicine Global Study-wide 125568 C=0.05769 A=0.94231
The Genome Aggregation Database Global Study-wide 30974 C=0.0536 A=0.9464
The Genome Aggregation Database European Sub 18500 C=0.0082 A=0.9918
The Genome Aggregation Database African Sub 8730 C=0.153 A=0.847
The Genome Aggregation Database East Asian Sub 1622 C=0.087 A=0.913
The Genome Aggregation Database Other Sub 982 C=0.02 A=0.98
The Genome Aggregation Database American Sub 838 C=0.01 A=0.99
The Genome Aggregation Database Ashkenazi Jewish Sub 302 C=0.01 A=0.99
1000Genomes Global Study-wide 5008 C=0.085 A=0.915
1000Genomes African Sub 1322 C=0.173 A=0.827
1000Genomes East Asian Sub 1008 C=0.072 A=0.928
1000Genomes Europe Sub 1006 C=0.006 A=0.994
1000Genomes South Asian Sub 978 C=0.11 A=0.89
1000Genomes American Sub 694 C=0.02 A=0.98
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.006 A=0.994
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.004 A=0.996
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 G Note
GRCh38.p7 chr 1 NC_000001.11:g.23...

NC_000001.11:g.237192685C=

NC_000001.11:g.23...

NC_000001.11:g.237192685C>A

NC_000001.11:g.23...

NC_000001.11:g.237192685C>G

GRCh37.p13 chr 1 NC_000001.10:g.23...

NC_000001.10:g.237355985C=

NC_000001.10:g.23...

NC_000001.10:g.237355985C>A

NC_000001.10:g.23...

NC_000001.10:g.237355985C>G

RYR2 RefSeqGene NG_008799.2:g.155...

NG_008799.2:g.155284C=

NG_008799.2:g.155...

NG_008799.2:g.155284C>A

NG_008799.2:g.155...

NG_008799.2:g.155284C>G

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#.

5 Frequency, 99 SubSNP submissions
No Submitter Submission ID Date (Build)
1 KWOK ss349789 Jul 12, 2000 (79)
2 SC_JCM ss854106 Aug 11, 2000 (85)
3 KWOK ss971713 Oct 04, 2000 (86)
4 KWOK ss972044 Oct 04, 2000 (86)
5 KWOK ss1875194 Oct 18, 2000 (87)
6 KWOK ss1875383 Oct 18, 2000 (89)
7 SC_JCM ss3486269 Sep 28, 2001 (100)
8 BCM_SSAHASNP ss9874623 Jul 11, 2003 (116)
9 WI_SSAHASNP ss11402795 Jul 11, 2003 (116)
10 SC_SNP ss13016720 Dec 05, 2003 (119)
11 SSAHASNP ss20560968 Apr 05, 2004 (121)
12 PERLEGEN ss23208050 Sep 20, 2004 (123)
13 ABI ss44024729 Mar 15, 2006 (126)
14 ILLUMINA ss67267628 Nov 30, 2006 (127)
15 ILLUMINA ss67667759 Nov 30, 2006 (127)
16 ILLUMINA ss68209976 Dec 12, 2006 (127)
17 ILLUMINA ss70746041 May 26, 2008 (130)
18 ILLUMINA ss71317734 May 17, 2007 (127)
19 ILLUMINA ss74932416 Dec 06, 2007 (129)
20 HGSV ss77698004 Dec 06, 2007 (129)
21 KRIBB_YJKIM ss83408131 Dec 15, 2007 (130)
22 HGSV ss83856185 Dec 15, 2007 (130)
23 BCMHGSC_JDW ss88020376 Mar 23, 2008 (129)
24 HUMANGENOME_JCVI ss98013490 Feb 06, 2009 (130)
25 BGI ss106642190 Feb 06, 2009 (130)
26 1000GENOMES ss109065165 Jan 23, 2009 (130)
27 1000GENOMES ss111990225 Jan 25, 2009 (130)
28 ILLUMINA-UK ss119258824 Feb 15, 2009 (130)
29 ENSEMBL ss138179011 Dec 01, 2009 (131)
30 ENSEMBL ss143439937 Dec 01, 2009 (131)
31 ILLUMINA ss154227966 Dec 01, 2009 (131)
32 GMI ss156463427 Dec 01, 2009 (131)
33 ILLUMINA ss159404468 Dec 01, 2009 (131)
34 ILLUMINA ss160569887 Dec 01, 2009 (131)
35 COMPLETE_GENOMICS ss165478434 Jul 04, 2010 (132)
36 COMPLETE_GENOMICS ss165919679 Jul 04, 2010 (132)
37 ILLUMINA ss173430200 Jul 04, 2010 (132)
38 BUSHMAN ss199796952 Jul 04, 2010 (132)
39 BCM-HGSC-SUB ss205169979 Jul 04, 2010 (132)
40 1000GENOMES ss218961003 Jul 14, 2010 (132)
41 1000GENOMES ss230961708 Jul 14, 2010 (132)
42 1000GENOMES ss238564402 Jul 15, 2010 (132)
43 ILLUMINA ss244291543 Jul 04, 2010 (132)
44 BL ss253907491 May 09, 2011 (134)
45 GMI ss276276599 May 04, 2012 (137)
46 GMI ss284254378 Apr 25, 2013 (138)
47 PJP ss290764040 May 09, 2011 (134)
48 ILLUMINA ss480635752 May 04, 2012 (137)
49 ILLUMINA ss480651004 May 04, 2012 (137)
50 ILLUMINA ss481493687 Sep 08, 2015 (146)
51 ILLUMINA ss485112968 May 04, 2012 (137)
52 ILLUMINA ss537116249 Sep 08, 2015 (146)
53 SSMP ss648806861 Apr 25, 2013 (138)
54 ILLUMINA ss778876075 Sep 08, 2015 (146)
55 ILLUMINA ss783002793 Sep 08, 2015 (146)
56 ILLUMINA ss783963232 Sep 08, 2015 (146)
57 ILLUMINA ss832259975 Sep 08, 2015 (146)
58 ILLUMINA ss834337034 Sep 08, 2015 (146)
59 EVA-GONL ss976298534 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1068717868 Aug 21, 2014 (142)
61 1000GENOMES ss1295223176 Aug 21, 2014 (142)
62 DDI ss1426156551 Apr 01, 2015 (144)
63 EVA_GENOME_DK ss1574778301 Apr 01, 2015 (144)
64 EVA_DECODE ss1585700552 Apr 01, 2015 (144)
65 EVA_UK10K_ALSPAC ss1602447353 Apr 01, 2015 (144)
66 EVA_UK10K_TWINSUK ss1645441386 Apr 01, 2015 (144)
67 EVA_SVP ss1712417277 Apr 01, 2015 (144)
68 ILLUMINA ss1751907419 Sep 08, 2015 (146)
69 HAMMER_LAB ss1795948766 Sep 08, 2015 (146)
70 WEILL_CORNELL_DGM ss1919520163 Feb 12, 2016 (147)
71 GENOMED ss1967009608 Jul 19, 2016 (147)
72 JJLAB ss2020286595 Sep 14, 2016 (149)
73 USC_VALOUEV ss2148323933 Nov 08, 2017 (151)
74 HUMAN_LONGEVITY ss2171265946 Dec 20, 2016 (150)
75 TOPMED ss2333917393 Dec 20, 2016 (150)
76 SYSTEMSBIOZJU ss2624656476 Nov 08, 2017 (151)
77 ILLUMINA ss2632648715 Nov 08, 2017 (151)
78 GRF ss2698326577 Nov 08, 2017 (151)
79 GNOMAD ss2767833257 Nov 08, 2017 (151)
80 AFFY ss2985542832 Nov 08, 2017 (151)
81 SWEGEN ss2988689130 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3023904954 Nov 08, 2017 (151)
83 TOPMED ss3107093310 Nov 08, 2017 (151)
84 TOPMED ss3107093311 Nov 08, 2017 (151)
85 CSHL ss3343981077 Nov 08, 2017 (151)
86 ILLUMINA ss3626343188 Jul 19, 2018 (151)
87 ILLUMINA ss3630677605 Jul 19, 2018 (151)
88 ILLUMINA ss3632931077 Jul 19, 2018 (151)
89 ILLUMINA ss3633627397 Jul 19, 2018 (151)
90 ILLUMINA ss3634380852 Jul 19, 2018 (151)
91 ILLUMINA ss3635320370 Jul 19, 2018 (151)
92 ILLUMINA ss3636059837 Jul 19, 2018 (151)
93 ILLUMINA ss3637070926 Jul 19, 2018 (151)
94 ILLUMINA ss3637822971 Jul 19, 2018 (151)
95 ILLUMINA ss3638926529 Jul 19, 2018 (151)
96 ILLUMINA ss3639774919 Jul 19, 2018 (151)
97 ILLUMINA ss3640088205 Jul 19, 2018 (151)
98 ILLUMINA ss3642828556 Jul 19, 2018 (151)
99 ILLUMINA ss3643827986 Jul 19, 2018 (151)
100 1000Genomes NC_000001.10 - 237355985 Jul 19, 2018 (151)
101 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 237355985 Jul 19, 2018 (151)
102 The Genome Aggregation Database NC_000001.10 - 237355985 Jul 19, 2018 (151)
103 Trans-Omics for Precision Medicine NC_000001.11 - 237192685 Jul 19, 2018 (151)
104 UK 10K study - Twins NC_000001.10 - 237355985 Jul 19, 2018 (151)
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)
rs680541 Sep 19, 2000 (85)
rs1243174 Nov 09, 2000 (89)
rs60933929 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss77698004, ss83856185, ss3638926529, ss3639774919, ss3643827986 NC_000001.8:233682025:C= NC_000001.11:237192684:C= (self)
ss88020376, ss109065165, ss111990225, ss119258824, ss165478434, ss165919679, ss199796952, ss205169979, ss253907491, ss276276599, ss284254378, ss290764040, ss480635752, ss1585700552, ss1712417277, ss3642828556 NC_000001.9:235422607:C= NC_000001.11:237192684:C= (self)
6098895, 3377413, 17232456, 3377413, ss218961003, ss230961708, ss238564402, ss480651004, ss481493687, ss485112968, ss537116249, ss648806861, ss778876075, ss783002793, ss783963232, ss832259975, ss834337034, ss976298534, ss1068717868, ss1295223176, ss1426156551, ss1574778301, ss1602447353, ss1645441386, ss1751907419, ss1795948766, ss1919520163, ss1967009608, ss2020286595, ss2148323933, ss2333917393, ss2624656476, ss2632648715, ss2698326577, ss2767833257, ss2985542832, ss2988689130, ss3343981077, ss3626343188, ss3630677605, ss3632931077, ss3633627397, ss3634380852, ss3635320370, ss3636059837, ss3637070926, ss3637822971, ss3640088205 NC_000001.10:237355984:C= NC_000001.11:237192684:C= (self)
32779908, ss2171265946, ss3023904954, ss3107093310, ss3107093311 NC_000001.11:237192684:C= NC_000001.11:237192684:C= (self)
ss9874623, ss11402795, ss13016720 NT_004836.14:2099343:C= NC_000001.11:237192684:C= (self)
ss20560968 NT_004836.15:2113773:C= NC_000001.11:237192684:C= (self)
ss349789, ss854106, ss971713, ss972044, ss1875194, ss1875383, ss3486269, ss23208050, ss44024729, ss67267628, ss67667759, ss68209976, ss70746041, ss71317734, ss74932416, ss83408131, ss98013490, ss106642190, ss138179011, ss143439937, ss154227966, ss156463427, ss159404468, ss160569887, ss173430200, ss244291543 NT_167186.1:30873763:C= NC_000001.11:237192684:C= (self)
ss77698004, ss83856185, ss3638926529, ss3639774919, ss3643827986 NC_000001.8:233682025:C>A NC_000001.11:237192684:C>A (self)
ss88020376, ss109065165, ss111990225, ss119258824, ss165478434, ss165919679, ss199796952, ss205169979, ss253907491, ss276276599, ss284254378, ss290764040, ss480635752, ss1585700552, ss1712417277, ss3642828556 NC_000001.9:235422607:C>A NC_000001.11:237192684:C>A (self)
6098895, 3377413, 17232456, 3377413, ss218961003, ss230961708, ss238564402, ss480651004, ss481493687, ss485112968, ss537116249, ss648806861, ss778876075, ss783002793, ss783963232, ss832259975, ss834337034, ss976298534, ss1068717868, ss1295223176, ss1426156551, ss1574778301, ss1602447353, ss1645441386, ss1751907419, ss1795948766, ss1919520163, ss1967009608, ss2020286595, ss2148323933, ss2333917393, ss2624656476, ss2632648715, ss2698326577, ss2767833257, ss2985542832, ss2988689130, ss3343981077, ss3626343188, ss3630677605, ss3632931077, ss3633627397, ss3634380852, ss3635320370, ss3636059837, ss3637070926, ss3637822971, ss3640088205 NC_000001.10:237355984:C>A NC_000001.11:237192684:C>A (self)
32779908, ss2171265946, ss3023904954, ss3107093310 NC_000001.11:237192684:C>A NC_000001.11:237192684:C>A (self)
ss9874623, ss11402795, ss13016720 NT_004836.14:2099343:C>A NC_000001.11:237192684:C>A (self)
ss20560968 NT_004836.15:2113773:C>A NC_000001.11:237192684:C>A (self)
ss349789, ss854106, ss971713, ss972044, ss1875194, ss1875383, ss3486269, ss23208050, ss44024729, ss67267628, ss67667759, ss68209976, ss70746041, ss71317734, ss74932416, ss83408131, ss98013490, ss106642190, ss138179011, ss143439937, ss154227966, ss156463427, ss159404468, ss160569887, ss173430200, ss244291543 NT_167186.1:30873763:C>A NC_000001.11:237192684:C>A (self)
ss3107093311 NC_000001.11:237192684:C>G NC_000001.11:237192684:C>G (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 rs268786

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: 0.1.4.post833+d3ba21e