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: rs1555441595
rs1555441595
FAH
1.000 0.120 15 80172242 missense variant T/G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.710 1.000 14 1992 2009