rs121434278, ACADM

N. diseases: 3
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.
Medium-chain acyl-coenzyme A dehydrogenase deficiency
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
114 0.882 0.120 1 75740094 missense variant G/A snv 4.0E-05 7.0E-05 0.810 1.000 21 1990 2015
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.882 0.120 1 75740094 missense variant G/A snv 4.0E-05 7.0E-05 0.010 1.000 1 1994 1994
Sudden infant death syndrome
CUI: C0038644
Disease: Sudden infant death syndrome
68 0.882 0.120 1 75740094 missense variant G/A snv 4.0E-05 7.0E-05 0.010 1.000 1 1997 1997