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.
3-Methylglutaconic aciduria type 2
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
22 1.000 0.120 X 154413248 missense variant C/A;T snv 0.810 1.000 4 1997 2002
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 1.000 0.120 X 154413248 missense variant C/A;T snv 0.010 1.000 1 2017 2017