rs756015202, DOK7

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.
Congenital myasthenic syndrome ib
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
30 0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 0.700 0
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 0.700 0
Gowers sign
CUI: C0234182
Disease: Gowers sign
8 0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06 0.700 0