TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Central neuroblastoma ×
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: rs1481318368
rs1481318368 		0.827 0.120 11 2169802 missense variant C/T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs75183227
rs75183227 		0.882 0.080 11 2169790 missense variant C/A snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017