FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
Disease: Tyrosinemia, Type I ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555441272
rs1555441272 		1.000 0.120 15 80168149 splice donor variant TG/- delins
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517436
rs1057517436 		1.000 0.120 15 80173083 frameshift variant TC/- delins 7.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs778387055
rs778387055 		1.000 0.120 15 80168093 missense variant T/G snv 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 17 1992 2011
dbSNP: rs1555441595
rs1555441595 		1.000 0.120 15 80172242 missense variant T/G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 14 1992 2009
dbSNP: rs1555441597
rs1555441597 		1.000 0.120 15 80172250 splice donor variant T/G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516631
rs1057516631 		1.000 0.120 15 80186207 stop lost T/C;G snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs772895065
rs772895065 		1.000 0.120 15 80153137 splice donor variant T/A;C snv 1.2E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516934
rs1057516934 		1.000 0.120 15 80153056 start lost T/A snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517084
rs1057517084 		1.000 0.120 15 80172151 frameshift variant T/-;TT delins
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs779642226
rs779642226 		1.000 0.120 15 80162319 frameshift variant T/- del 1.4E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121965075
rs121965075 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 10 1993 2015
dbSNP: rs786204683
rs786204683 		1.000 0.120 15 80158171 splice donor variant G/T snv
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1998 2015
dbSNP: rs121965076
rs121965076 		1.000 0.120 15 80181069 stop gained G/T snv 2.4E-05 2.1E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs80338895
rs80338895 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 15 1996 2015
dbSNP: rs80338894
rs80338894 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1992 2016
dbSNP: rs149052294
rs149052294 		1.000 0.120 15 80173013 splice acceptor variant G/A;T snv 2.4E-05; 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2002 2011
dbSNP: rs970505762
rs970505762 		1.000 0.120 15 80180190 missense variant G/A;T snv 1.2E-05 5.6E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2011 2013
dbSNP: rs370686447
rs370686447 		1.000 0.120 15 80168052 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516679
rs1057516679 		1.000 0.120 15 80162336 stop gained G/A;C snv 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1247460110
rs1247460110 		1.000 0.120 15 80158059 splice acceptor variant G/A;C snv 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs771712041
rs771712041 		1.000 0.120 15 80172148 splice acceptor variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 1996 1996
dbSNP: rs80338900
rs80338900 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 18 1992 2014
dbSNP: rs80338901
rs80338901 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 18 1993 2017
dbSNP: rs754196530
rs754196530 		1.000 0.120 15 80172162 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 14 1992 2009
dbSNP: rs80338899
rs80338899 		0.925 0.120 15 80173093 stop gained G/A snv 8.0E-05 9.1E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1994 2005