Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121965074
rs121965074
FAH
0.882 0.120 15 80162282 missense variant C/A snv 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.800 1.000 16 1992 2009
dbSNP: rs121965074
rs121965074
FAH
0.882 0.120 15 80162282 missense variant C/A snv 4.0E-06
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		0.010 1.000 1 1994 1994
dbSNP: rs121965074
rs121965074
FAH
0.882 0.120 15 80162282 missense variant C/A snv 4.0E-06
CUI: C1879362
Disease: Hypertyrosinemia
Hypertyrosinemia 		0.010 1.000 1 1994 1994