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.
Very long chain acyl-CoA dehydrogenase deficiency
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
118 1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05 0.700 1.000 6 2003 2015
Myopathy
CUI: C0026848
Disease: Myopathy
166 1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05 0.700 0
Rhabdomyolysis
CUI: C0035410
Disease: Rhabdomyolysis
15 1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05 0.700 0