Variant: rs1057524468 

    present in Gene: CAPN3
    present in Chromosome: 15
    Position on Chromosome: 42394343
    Alleles of this Variant: T/A;C

rs1057524468 in CAPN3 gene and Limb-girdle muscular dystrophy type 2A PMID 15689361 2005 LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

PMID 10330340 1999 Calpainopathy-a survey of mutations and polymorphisms.