rs1555738675, 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, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
52 1.000 0.120 19 46756131 frameshift variant GGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGC/- delins 0.700 0