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rs116840785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840785(A;A)
Make rs116840785(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position8733961
GeneCAV3
is asnp
is mentioned by
dbSNPrs116840785
ebirs116840785
HLIrs116840785
Exacrs116840785
Varsomers116840785
Maprs116840785
PheGenIrs116840785
hapmaprs116840785
1000 genomesrs116840785
hgdprs116840785
ensemblrs116840785
gopubmedrs116840785
geneviewrs116840785
scholarrs116840785
googlers116840785
pharmgkbrs116840785
gwascentralrs116840785
openSNPrs116840785
23andMers116840785
23andMe allrs116840785
SNP Nexus

SNPshotrs116840785
SNPdbers116840785
MSV3drs116840785
GWAS Ctlgrs116840785
Max Magnitude0
ClinVar
Risk rs116840785(A;A)
Alt rs116840785(A;A)
Reference rs116840785(C;C)
Significance Untested
Disease not provided
Variation info
Gene SSUH2 CAV3
CLNDBN not provided
Reversed 0
HGVS NC_000003.11:g.8775647C>A
CLNSRC Leiden Muscular Dystrophy pages (CAV3)
CLNACC RCV000024396.1,


[PMID 15314133OA-icon.png] Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.

[PMID 15314133OA-icon.png] Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.

OMIM606072
Desc
Variant
Relatedalso