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: rs80338895
rs80338895
FAH
1.000 0.120 15 80168263 splice acceptor variant G/C;T snv 1.5E-04
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.700 1.000 15 1996 2015
dbSNP: rs121965075
rs121965075
FAH
1.000 0.120 15 80181048 stop gained G/T snv 2.8E-05 7.7E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.700 1.000 10 1993 2015
dbSNP: rs786204683
rs786204683
FAH
1.000 0.120 15 80158171 splice donor variant G/T snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.700 1.000 2 1998 2015
dbSNP: rs80338894
rs80338894
FAH
1.000 0.120 15 80158170 missense variant G/A;T snv 4.0E-06; 6.4E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.800 1.000 22 1992 2016
dbSNP: rs80338901
rs80338901
FAH
1.000 0.120 15 80180230 missense variant G/A snv 3.7E-04 2.7E-04
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		0.700 1.000 18 1993 2017