rs28937900, FKRP

N. diseases: 37
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MUSCULAR DYSTROPHY, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
0.710 GeneticVariation BEFREE Patients with the C826A change had the clinically less severe LGMD2I phenotype, suggesting that this is a less disruptive FKRP mutation than those found in MDC1C. 11741828 2001
MUSCULAR DYSTROPHY, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
0.710 CausalMutation CLINVAR