Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057524468
rs1057524468
CAPN3
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		A 0.700 GeneticVariation CLINVAR LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 15689361

2005
dbSNP: rs1057524468
rs1057524468
CAPN3
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		A 0.700 GeneticVariation CLINVAR Calpainopathy-a survey of mutations and polymorphisms. 10330340

1999