rs104894445, 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 54845843 missense variant C/T snv 0.800 1.000 3 1995 2017
Dopa-Responsive Dystonia
CUI: C1851920
Disease: Dopa-Responsive Dystonia
33 0.925 0.120 14 54845843 missense variant C/T snv 0.020 1.000 2 2004 2019