rs121917762, 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)
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
56 0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 20 1995 2014
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
Segawa syndrome
CUI: C4524082
Disease: Segawa syndrome
1 0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1999 1999