rs72554656, PGK1;ATP7A

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
0.010 GeneticVariation BEFREE In the first patient with the MD phenotype, a mutation within the exon 20 (Gln1288Ter) was found producing a stop codon just prior to the highly conserved ATP binding domain. 11936860 2001