rs1553521119, DYSF

N. diseases: 5
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.
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0
Difficulty standing
CUI: C0241237
Disease: Difficulty standing
14 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
150 0.925 0.120 2 71513892 frameshift variant C/- del 0.700 0