rs200916654, DYSF

N. diseases: 4
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
43 0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 0.700 0
Difficulty standing
CUI: C0241237
Disease: Difficulty standing
14 0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 0.700 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
150 0.925 0.120 2 71551635 missense variant T/C snv 2.9E-05 0.700 0