rs1555441272
|
1.000 |
0.120 |
15 |
80168149 |
splice donor variant |
TG/-
|
delins
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517436
|
1.000 |
0.120 |
15 |
80173083 |
frameshift variant |
TC/-
|
delins
|
|
7.0E-06
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs778387055
|
1.000 |
0.120 |
15 |
80168093 |
missense variant |
T/G
|
snv
|
4.0E-06
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
17 |
1992 |
2011 |
rs1555441595
|
1.000 |
0.120 |
15 |
80172242 |
missense variant |
T/G
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
14 |
1992 |
2009 |
rs1555441597
|
1.000 |
0.120 |
15 |
80172250 |
splice donor variant |
T/G
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516631
|
1.000 |
0.120 |
15 |
80186207 |
stop lost |
T/C;G
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs772895065
|
1.000 |
0.120 |
15 |
80153137 |
splice donor variant |
T/A;C
|
snv
|
1.2E-05
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516934
|
1.000 |
0.120 |
15 |
80153056 |
start lost |
T/A
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517084
|
1.000 |
0.120 |
15 |
80172151 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs779642226
|
1.000 |
0.120 |
15 |
80162319 |
frameshift variant |
T/-
|
del
|
|
1.4E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121965075
|
1.000 |
0.120 |
15 |
80181048 |
stop gained |
G/T
|
snv
|
2.8E-05
|
7.7E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1993 |
2015 |
rs786204683
|
1.000 |
0.120 |
15 |
80158171 |
splice donor variant |
G/T
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1998 |
2015 |
rs121965076
|
1.000 |
0.120 |
15 |
80181069 |
stop gained |
G/T
|
snv
|
2.4E-05
|
2.1E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80338895
|
1.000 |
0.120 |
15 |
80168263 |
splice acceptor variant |
G/C;T
|
snv
|
1.5E-04
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1996 |
2015 |
rs80338894
|
1.000 |
0.120 |
15 |
80158170 |
missense variant |
G/A;T
|
snv
|
4.0E-06;
6.4E-05
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1992 |
2016 |
rs149052294
|
1.000 |
0.120 |
15 |
80173013 |
splice acceptor variant |
G/A;T
|
snv
|
2.4E-05;
4.0E-06
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2002 |
2011 |
rs970505762
|
1.000 |
0.120 |
15 |
80180190 |
missense variant |
G/A;T
|
snv
|
1.2E-05
|
5.6E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2011 |
2013 |
rs370686447
|
1.000 |
0.120 |
15 |
80168052 |
stop gained |
G/A;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516679
|
1.000 |
0.120 |
15 |
80162336 |
stop gained |
G/A;C
|
snv
|
4.0E-06
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1247460110
|
1.000 |
0.120 |
15 |
80158059 |
splice acceptor variant |
G/A;C
|
snv
|
4.0E-06
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs771712041
|
1.000 |
0.120 |
15 |
80172148 |
splice acceptor variant |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1996 |
1996 |
rs80338900
|
1.000 |
0.120 |
15 |
80180172 |
missense variant |
G/A
|
snv
|
7.2E-05
|
6.3E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
1992 |
2014 |
rs80338901
|
1.000 |
0.120 |
15 |
80180230 |
missense variant |
G/A
|
snv
|
3.7E-04
|
2.7E-04
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
18 |
1993 |
2017 |
rs754196530
|
1.000 |
0.120 |
15 |
80172162 |
missense variant |
G/A
|
snv
|
8.0E-06
|
2.1E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
14 |
1992 |
2009 |
rs80338899
|
0.925 |
0.120 |
15 |
80173093 |
stop gained |
G/A
|
snv
|
8.0E-05
|
9.1E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1994 |
2005 |