rs121917763, TH

N. diseases: 2
Source: CURATED ×
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)
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
56 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.800 1.000 22 1995 2014
Dystonia
CUI: C0013421
Disease: Dystonia
61 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.710 1.000 7 1991 2014