rs104894442, 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 1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 0.700 1.000 15 1994 2006
Dystonia
CUI: C0013421
Disease: Dystonia
97 1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 0.010 1.000 1 1999 1999
Dystonia Disorders
CUI: C0393593
Disease: Dystonia Disorders
37 1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 0.010 1.000 1 1999 1999