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rs116840798

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs116840798(A;C)
Make rs116840798(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745598
GeneCAV3
is asnp
is mentioned by
dbSNPrs116840798
ebirs116840798
HLIrs116840798
Exacrs116840798
Varsomers116840798
Maprs116840798
PheGenIrs116840798
hapmaprs116840798
1000 genomesrs116840798
hgdprs116840798
ensemblrs116840798
gopubmedrs116840798
geneviewrs116840798
scholarrs116840798
googlers116840798
pharmgkbrs116840798
gwascentralrs116840798
openSNPrs116840798
23andMers116840798
23andMe allrs116840798
SNP Nexus

SNPshotrs116840798
SNPdbers116840798
MSV3drs116840798
GWAS Ctlgrs116840798
Max Magnitude0
ClinVar
Risk rs116840798(C;C)
Alt rs116840798(C;C)
Reference rs116840798(A;A)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAV3
CLNDBN Limb-girdle muscular dystrophy, type 1C
Reversed 0
HGVS NC_000003.11:g.8787284A>C
CLNSRC
CLNACC


[PMID 11532985] The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

OMIM607801
Desc
Variant
Relatedalso