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rs116840794

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs116840794(A;G)
Make rs116840794(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745568
GeneCAV3
is asnp
is mentioned by
dbSNPrs116840794
ebirs116840794
HLIrs116840794
Exacrs116840794
Varsomers116840794
Maprs116840794
PheGenIrs116840794
hapmaprs116840794
1000 genomesrs116840794
hgdprs116840794
ensemblrs116840794
gopubmedrs116840794
geneviewrs116840794
scholarrs116840794
googlers116840794
pharmgkbrs116840794
gwascentralrs116840794
openSNPrs116840794
23andMers116840794
23andMe allrs116840794
SNP Nexus

SNPshotrs116840794
SNPdbers116840794
MSV3drs116840794
GWAS Ctlgrs116840794
Max Magnitude0
ClinVar
Risk rs116840794(G;G)
Alt rs116840794(G;G)
Reference rs116840794(A;A)
Significance Untested
Disease not provided
Variation info
Gene SSUH2 CAV3
CLNDBN not provided
Reversed 0
HGVS NC_000003.11:g.8787254A>G
CLNSRC Leiden Muscular Dystrophy pages (CAV3)
CLNACC RCV000024419.1,


[PMID 16458928] A new missense mutation in caveolin-3 gene causes rippling muscle disease.

OMIM606072
Desc
Variant
Relatedalso