rs121434285, IVD

N. diseases: 2
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 0.925 0.080 15 40411600 missense variant G/T snv 8.0E-06; 8.0E-06 2.1E-05 0.700 1.000 6 1991 2017
ISOVALERIC ACIDEMIA, TYPE I
CUI: C4017056
Disease: ISOVALERIC ACIDEMIA, TYPE I
2 0.925 0.080 15 40411600 missense variant G/T snv 8.0E-06; 8.0E-06 2.1E-05 0.700 0