Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60682848
rs60682848
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015