FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
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: rs1057516333
rs1057516333 		1.000 0.120 15 80186129 splice acceptor variant G/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: rs1057516408
rs1057516408 		1.000 0.120 15 80159878 splice donor variant G/A 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 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: 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: rs1057516684
rs1057516684 		1.000 0.120 15 80168056 frameshift variant ACTTACCAGTGGGCTACCATGGCCGTGCCTC/- 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: 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: rs1057517113
rs1057517113 		1.000 0.120 15 80168087 frameshift variant C/- 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: rs1057517201
rs1057517201 		1.000 0.120 15 80177584 splice donor variant G/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: rs1057517341
rs1057517341 		1.000 0.120 15 80153066 frameshift variant C/- 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: rs1057517972
rs1057517972 		1.000 0.120 15 80153055 start lost A/G snv 8.0E-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 2005 2013
dbSNP: rs11555096
rs11555096 		1.000 15 80180184 missense variant C/A;T snv 1.7E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs11555096
rs11555096 		1.000 15 80180184 missense variant C/A;T snv 1.7E-02
CUI: C1291607
Disease: Deficiency of maleylacetoacetate isomerase
Deficiency of maleylacetoacetate isomerase 		0.010 1.000 1 2018 2018
dbSNP: rs121965073
rs121965073 		1.000 0.120 15 80153101 missense variant A/G;T snv 8.0E-06; 2.8E-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 14 1992 2009
dbSNP: rs121965074
rs121965074 		0.882 0.120 15 80162282 missense variant C/A 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 16 1992 2009
dbSNP: rs121965074
rs121965074 		0.882 0.120 15 80162282 missense variant C/A snv 4.0E-06
CUI: C1879362
Disease: Hypertyrosinemia
Hypertyrosinemia 		0.010 1.000 1 1994 1994
dbSNP: rs121965074
rs121965074 		0.882 0.120 15 80162282 missense variant C/A snv 4.0E-06
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1994 1994
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: 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: rs121965077
rs121965077 		1.000 0.120 15 80181120 missense variant A/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 0.800 1.000 14 1992 2009
dbSNP: rs121965078
rs121965078 		0.925 0.120 15 80173143 missense variant A/G snv 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 0.800 1.000 14 1992 2009
dbSNP: rs121965078
rs121965078 		0.925 0.120 15 80173143 missense variant A/G snv 7.0E-06
CUI: C0268483
Disease: Tyrosinemias
Tyrosinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
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: rs1297118863
rs1297118863 		1.000 0.120 15 80186159 missense variant G/A snv 1.2E-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 1.000 1 2010 2010