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: rs80338899
rs80338899
FAH
0.925 0.120 15 80173093 stop gained G/A snv 8.0E-05 9.1E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.700 1.000 6 1994 2005
dbSNP: rs80338899
rs80338899
FAH
0.925 0.120 15 80173093 stop gained G/A snv 8.0E-05 9.1E-05
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		0.010 1.000 1 2004 2004