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 0.925 0.240 17 7223984 missense variant G/A snv 2.4E-05 1.4E-05 0.810 1.000 1 2020 2020
Abnormality of circulating enzyme level
CUI: C4023591
Disease: Abnormality of circulating enzyme level
1 0.925 0.240 17 7223984 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
Rhabdomyolysis
CUI: C0035410
Disease: Rhabdomyolysis
15 0.925 0.240 17 7223984 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
243 0.925 0.240 17 7223984 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2019 2019