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: 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: 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: 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: 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: 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: 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: 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: rs1555440522
rs1555440522 		1.000 0.120 15 80159754 splice acceptor 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 0.700 0
dbSNP: rs1555440603
rs1555440603 		1.000 0.120 15 80160408 splice acceptor 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 0.700 0
dbSNP: rs1555441251
rs1555441251 		1.000 0.120 15 80168050 splice acceptor 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 0.700 0
dbSNP: rs1555442289
rs1555442289 		1.000 0.120 15 80180122 splice acceptor variant A/C 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: rs1555442385
rs1555442385 		1.000 0.120 15 80181040 splice acceptor 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 0.700 0
dbSNP: rs786204551
rs786204551 		1.000 0.120 15 80186139 frameshift variant A/- 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 1.000 2 1999 2011
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: rs1555441703
rs1555441703 		1.000 0.120 15 80173142 frameshift variant C/- del
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: rs750741137
rs750741137 		1.000 0.120 15 80173049 frameshift variant G/- 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: 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: 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: 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: rs1555441852
rs1555441852 		1.000 0.120 15 80175022 frameshift variant -/TGGCCCCTGCC 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: rs1555441861
rs1555441861 		1.000 0.120 15 80175060 frameshift variant -/T 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: 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: 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