Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116840789
rs116840789
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C1853698
Disease:
Rippling muscle disease
0.010 GeneticVariation BEFREE Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. 20229577 2010