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 |
rs80338898
|
1.000 |
0.120 |
15 |
80173089 |
missense variant |
C/T
|
snv
|
1.7E-04
|
5.6E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
1992 |
2013 |
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 |
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 |
rs121965074
|
0.882 |
0.120 |
15 |
80162282 |
missense variant |
C/A
|
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 |
16 |
1992 |
2009 |
rs779040832
|
1.000 |
0.120 |
15 |
80180188 |
missense variant |
C/T
|
snv
|
1.6E-05;
4.5E-05
|
7.0E-06
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1992 |
2009 |
rs121965073
|
1.000 |
0.120 |
15 |
80153101 |
missense variant |
A/G;T
|
snv
|
8.0E-06;
2.8E-05
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1992 |
2009 |
rs121965077
|
1.000 |
0.120 |
15 |
80181120 |
missense variant |
A/G
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1992 |
2009 |
rs121965078
|
0.925 |
0.120 |
15 |
80173143 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1992 |
2009 |
rs80338897
|
1.000 |
0.120 |
15 |
80172240 |
missense variant |
A/T
|
snv
|
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1992 |
2009 |
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 |
rs769550316
|
1.000 |
0.120 |
15 |
80173016 |
stop gained |
C/T
|
snv
|
1.2E-05
|
2.1E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
2 |
1996 |
2012 |
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 |
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 |
rs370634385
|
1.000 |
0.120 |
15 |
80175058 |
missense variant |
A/C
|
snv
|
1.6E-05
|
2.8E-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 |
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 |
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 |
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 |
rs781496816
|
1.000 |
0.120 |
15 |
80168116 |
stop gained |
C/T
|
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 |
5 |
1996 |
2012 |
rs1057517972
|
1.000 |
0.120 |
15 |
80153055 |
start lost |
A/G
|
snv
|
8.0E-06
|
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2013 |
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 |
rs11555096
|
1.000 |
|
15 |
80180184 |
missense variant |
C/A;T
|
snv
|
1.7E-02
|
|
Blood Protein Measurement
|
|
0.700 |
1.000 |
2 |
2018 |
2018 |
rs786204551
|
1.000 |
0.120 |
15 |
80186139 |
frameshift variant |
A/-
|
del
|
|
1.4E-05
|
Tyrosinemia, Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1999 |
2011 |
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 |