rs104894443, GCH1

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.
Hyperphenylalaninemia, BH4-Deficient, B
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
13 0.925 0.120 14 54844137 missense variant C/T snv 0.800 1.000 2 1995 1998
Hyperphenylalaninaemia
CUI: C0751435
Disease: Hyperphenylalaninaemia
38 0.925 0.120 14 54844137 missense variant C/T snv 0.010 1.000 1 1999 1999