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rs116840805

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840805(C;T)
Make rs116840805(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745725
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs116840805
ebirs116840805
HLIrs116840805
Exacrs116840805
Varsomers116840805
Maprs116840805
PheGenIrs116840805
hapmaprs116840805
1000 genomesrs116840805
hgdprs116840805
ensemblrs116840805
gopubmedrs116840805
geneviewrs116840805
scholarrs116840805
googlers116840805
pharmgkbrs116840805
gwascentralrs116840805
openSNPrs116840805
23andMers116840805
23andMe allrs116840805
SNP Nexus

SNPshotrs116840805
SNPdbers116840805
MSV3drs116840805
GWAS Ctlgrs116840805
Max Magnitude0
OMIM601253
Desc
Variant0001
Relatedalso
ClinVar
Risk rs116840805(T;T)
Alt rs116840805(T;T)
Reference rs116840805(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Rippling muscle disease 2 not provided
Variation info
Gene SSUH2 CAV3
CLNDBN Limb-girdle muscular dystrophy, type 1C Rippling muscle disease 2 not provided
Reversed 0
HGVS NC_000003.11:g.8787411C>T
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008765.4, RCV000008766.3, RCV000024379.1,


[PMID 9537420] Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.


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