rs771610752, 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
CUI: C0013421
Disease: Dystonia
97 0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05 0.700 1.000 3 2010 2017
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 2168614 stop gained G/A snv 6.2E-05 2.1E-05 0.700 1.000 2 2010 2012
Dopa-Responsive Dystonia
CUI: C1851920
Disease: Dopa-Responsive Dystonia
33 0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05 0.010 1.000 1 2017 2017