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rs116840782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840782(A;A)
Make rs116840782(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position8733960
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs116840782
ebirs116840782
HLIrs116840782
Exacrs116840782
Varsomers116840782
Maprs116840782
PheGenIrs116840782
hapmaprs116840782
1000 genomesrs116840782
hgdprs116840782
ensemblrs116840782
gopubmedrs116840782
geneviewrs116840782
scholarrs116840782
googlers116840782
pharmgkbrs116840782
gwascentralrs116840782
openSNPrs116840782
23andMers116840782
23andMe allrs116840782
SNP Nexus

SNPshotrs116840782
SNPdbers116840782
MSV3drs116840782
GWAS Ctlgrs116840782
Merged fromRs121909279
Max Magnitude0
OMIM601253
Desc
Variant0008
Relatedalso
ClinVar
Risk rs116840782(A;A)
Alt rs116840782(A;A)
Reference rs116840782(C;C)
Significance Pathogenic
Disease Rippling muscle disease 2 Limb-girdle muscular dystrophy not provided
Variation info
Gene SSUH2 CAV3
CLNDBN Rippling muscle disease 2 Limb-girdle muscular dystrophy, type 1C not provided
Reversed 0
HGVS NC_000003.11:g.8775646C>A
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008770.2, RCV000008771.3, RCV000024386.1,


[PMID 12557291] Consequences of a novel caveolin-3 mutation in a large German family.

[PMID 19835634OA-icon.png] Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.

[PMID 21294223OA-icon.png] Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.