rs2229311, IVD

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.
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
55 1.000 0.080 15 40407640 missense variant G/A;C;T snv 2.8E-05; 1.6E-05; 4.0E-06 0.800 1.000 9 1998 2017