rs5030846, 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 102852930 stop gained G/A snv 4.4E-05 4.2E-05 0.700 1.000 14 1990 2015
Phenylketonurias
CUI: C0031485
Disease: Phenylketonurias
46 1.000 0.120 12 102852930 stop gained G/A snv 4.4E-05 4.2E-05 0.010 1.000 1 1995 1995