rs41298442, GCH1

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.
Dopa-Responsive Dystonia
CUI: C1851920
Disease: Dopa-Responsive Dystonia
33 0.882 0.120 14 54844099 missense variant T/C;G snv 3.9E-04 0.800 1.000 16 1994 2011
Hyperphenylalaninemia, BH4-Deficient, B
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
13 0.882 0.120 14 54844099 missense variant T/C;G snv 3.9E-04 0.700 1.000 2 1995 1998
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
56 0.882 0.120 14 54844099 missense variant T/C;G snv 3.9E-04 0.700 0