rs113994167, ACADVL

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.
Very long chain acyl-CoA dehydrogenase deficiency
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
118 0.882 0.240 17 7222272 missense variant T/C snv 1.3E-03 1.1E-03 0.700 1.000 13 1996 2015
Pearson's marrow-pancreas syndrome
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
4 0.882 0.240 17 7222272 missense variant T/C snv 1.3E-03 1.1E-03 0.700 1.000 4 1996 2012
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.882 0.240 17 7222272 missense variant T/C snv 1.3E-03 1.1E-03 0.010 1.000 1 2015 2015