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: rs1297118863
rs1297118863
FAH
1.000 0.120 15 80186159 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.700 1.000 1 2010 2010