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.
HHH syndrome
CUI: C0268540
Disease: HHH syndrome
21 1.000 0.160 13 40799096 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2006 2006