Variant: rs121912682 

    present in Gene: AMPD1
    present in Chromosome: 1
    Position on Chromosome: 114677465
    Alleles of this Variant: C/G;T

rs121912682 in AMPD1 gene and MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY PMID 11102975 2000 First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.