TAT, tyrosine aminotransferase, 6898

N. diseases: 230; N. variants: 28
Disease: Tyrosine Transaminase Deficiency Disease ×
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: rs1555537741
rs1555537741 		1.000 0.120 16 71570667 splice donor variant TATTATCACCTCATTGCCA/- delins
CUI: C0268487
Disease: Tyrosine Transaminase Deficiency Disease
Tyrosine Transaminase Deficiency Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0