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: rs80338900
rs80338900
FAH
1.000 0.120 15 80180172 missense variant G/A snv 7.2E-05 6.3E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.800 1.000 18 1992 2014