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rs116840773

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840773(A;A)
Make rs116840773(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745548
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs116840773
ebirs116840773
HLIrs116840773
Exacrs116840773
Varsomers116840773
Maprs116840773
PheGenIrs116840773
hapmaprs116840773
1000 genomesrs116840773
hgdprs116840773
ensemblrs116840773
gopubmedrs116840773
geneviewrs116840773
scholarrs116840773
googlers116840773
pharmgkbrs116840773
gwascentralrs116840773
openSNPrs116840773
23andMers116840773
23andMe allrs116840773
SNP Nexus

SNPshotrs116840773
SNPdbers116840773
MSV3drs116840773
GWAS Ctlgrs116840773
Merged fromRs121909277
Max Magnitude0
OMIM601253
Desc
Variant0006
Relatedalso
ClinVar
Risk rs116840773(A;A) rs116840773(T;T)
Alt rs116840773(A;A) rs116840773(T;T)
Reference Rs116840773(C;C)
Significance Pathogenic
Disease not provided Rippling muscle disease 2
Variation info
Gene SSUH2 CAV3
CLNDBN not provided Rippling muscle disease 2
Reversed 0
HGVS NC_000003.11:g.8787234C>A; NC_000003.11:g.8787234C>T
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024424.1, RCV000008775.4, RCV000024383.1,


[PMID 2705900] Rippling muscle disease.


[PMID 11431690] Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.


[PMID 19773168] Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.