rs199475623, PAH

N. diseases: 1
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 102877517 missense variant T/A;C snv 4.0E-06 0.700 1.000 12 1997 2016