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: rs121965073
rs121965073
FAH
1.000 0.120 15 80153101 missense variant A/G;T snv 8.0E-06; 2.8E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.800 1.000 14 1992 2009