Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894435
GCH1
0.882 0.120 14 54902341 missense variant C/T snv 3
rs41298442
GCH1
0.882 0.120 14 54844099 missense variant T/C;G snv 3.9E-04 3
rs104894434
GCH1
0.925 0.120 14 54844108 missense variant A/G snv 1.6E-05 2.1E-05 2