Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123839
rs398123839
DMD
C 0.700 CausalMutation CLINVAR DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. 14695533

2004

dbSNP: rs398123839
rs398123839
DMD
C 0.700 CausalMutation CLINVAR Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. 11524473

2001

dbSNP: rs398123839
rs398123839
DMD
C 0.700 CausalMutation CLINVAR Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. 8281150

1993

dbSNP: rs398123839
rs398123839
DMD
C 0.700 CausalMutation CLINVAR Point mutations in the dystrophin gene. 1549596

1992