rs5030857, PAH

N. diseases: 3
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 0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04 0.820 1.000 39 1993 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04 0.700 1.000 17 1993 2015
Hyperphenylalaninaemia
CUI: C0751435
Disease: Hyperphenylalaninaemia
38 0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04 0.010 1.000 1 2001 2001