rs80338892, TH

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.
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
56 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.800 1.000 23 1995 2014
Dystonia
CUI: C0013421
Disease: Dystonia
97 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.700 1.000 7 1998 2015
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.010 1.000 1 2017 2017