rs76394784, PAH

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.
Classical phenylketonuria
CUI: C0751434
Disease: Classical phenylketonuria
385 1.000 0.120 12 102894883 missense variant T/A snv 4.8E-05 7.0E-05 0.810 1.000 47 1991 2015
Phenylketonurias
CUI: C0031485
Disease: Phenylketonurias
46 1.000 0.120 12 102894883 missense variant T/A snv 4.8E-05 7.0E-05 0.020 1.000 2 2000 2019