Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768090444
rs768090444
CAPN3
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		T 0.700 CausalMutation CLINVAR Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. 16141003

2005
dbSNP: rs768090444
rs768090444
CAPN3
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		G 0.700 CausalMutation CLINVAR

dbSNP: rs768090444
rs768090444
CAPN3
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs768090444
rs768090444
CAPN3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		G 0.700 CausalMutation CLINVAR