Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568419860
rs1568419860
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		TGG 0.700 CausalMutation CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342

2017
dbSNP: rs1568419860
rs1568419860
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		TGG 0.700 CausalMutation CLINVAR Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. 28629604

2017
dbSNP: rs1568419860
rs1568419860
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		TGG 0.700 CausalMutation CLINVAR First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy. 26320847

2016
dbSNP: rs1568419860
rs1568419860
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		TGG 0.700 CausalMutation CLINVAR Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. 15833426

2005