Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936686
rs28936686
CAV3 ; SSUH2
A 0.700 GeneticVariation CLINVAR Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 15668980

2005
dbSNP: rs28936686
rs28936686
CAV3 ; SSUH2
A 0.700 GeneticVariation CLINVAR Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. 12666119

2003