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: rs779040832
rs779040832
FAH
1.000 0.120 15 80180188 missense variant C/T snv 1.6E-05; 4.5E-05 7.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.800 1.000 15 1992 2009