TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Segawa syndrome ×
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: rs121917762
rs121917762 		0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome 		0.010 1.000 1 1999 1999