rs752582904, FKRP

N. diseases: 2
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 0.925 0.120 19 46756397 missense variant C/G snv 6.0E-06 7.0E-06 0.700 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
52 0.925 0.120 19 46756397 missense variant C/G snv 6.0E-06 7.0E-06 0.700 0