TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917763
rs121917763
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.030 1.000 3 1996 1999
dbSNP: rs80338892
rs80338892
1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
Nervous System Diseases 0.010 1.000 1 2017 2017