rs1057520772, FKRP

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MUSCULAR DYSTROPHY, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
12 1.000 0.120 19 46756844 missense variant A/C snv 0.700 0