Source: CURATED

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: rs80338897
rs80338897
FAH
1.000 0.120 15 80172240 missense variant A/T snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.800 1.000 14 1992 2009