rs367996531, ACAD8

N. diseases: 1
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.
Isobutyryl-CoA dehydrogenase deficiency
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
12 1.000 0.080 11 134262581 missense variant A/G snv 8.0E-05 6.3E-05 0.700 1.000 3 2003 2006