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: rs370634385
rs370634385
FAH
1.000 0.120 15 80175058 missense variant A/C snv 1.6E-05 2.8E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.700 1.000 14 1992 2009