FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: Walker-Warburg congenital muscular dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1290836394
rs1290836394
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
CUI: C0265221
Disease:
Walker-Warburg congenital muscular dystrophy 		TGGTGC 0.700 CausalMutation CLINVAR