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: rs754196530
rs754196530
FAH
1.000 0.120 15 80172162 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.700 1.000 14 1992 2009