rs116840789, SSUH2;CAV3

N. diseases: 6
Disease: Distal Muscular Dystrophies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Distal Muscular Dystrophies
CUI: C0751336
Disease: Distal Muscular Dystrophies
0.010 GeneticVariation BEFREE This study suggested that the CAV3 c.136G > A (p.Ala46Thr) mutation can cause MD as well as different phenotypes in different individuals, suggesting that additional unknown loci must affect the disease phenotypes. 26947586 2016