rs146727601
|
1.000 |
0.040 |
11 |
112247868 |
intron variant |
AT/-;ATAT
|
delins
|
|
5.3E-02
|
Bipolar Disorder
|
Mental Disorders
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs200712908
|
0.925 |
0.120 |
11 |
112233434 |
missense variant |
C/T
|
snv
|
1.2E-04
|
9.8E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
14 |
1994 |
2013 |
rs200712908
|
0.925 |
0.120 |
11 |
112233434 |
missense variant |
C/T
|
snv
|
1.2E-04
|
9.8E-05
|
Hyperphenylalaninaemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
1998 |
1998 |
rs150726932
|
1.000 |
0.120 |
11 |
112233487 |
missense variant |
G/T
|
snv
|
7.2E-05
|
2.8E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
12 |
1994 |
2001 |
rs1040441824
|
0.882 |
0.200 |
11 |
112233502 |
missense variant |
A/G
|
snv
|
|
2.1E-05
|
Liver carcinoma
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
1997 |
1997 |
rs1040441824
|
0.882 |
0.200 |
11 |
112233502 |
missense variant |
A/G
|
snv
|
|
2.1E-05
|
Transient hyperphenylalaninemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
1997 |
1997 |
rs1040441824
|
0.882 |
0.200 |
11 |
112233502 |
missense variant |
A/G
|
snv
|
|
2.1E-05
|
Liver neoplasms
|
Digestive System Diseases; Neoplasms
|
0.010 |
1.000 |
1 |
1997 |
1997 |
rs1040441824
|
0.882 |
0.200 |
11 |
112233502 |
missense variant |
A/G
|
snv
|
|
2.1E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs770387277
|
1.000 |
0.120 |
11 |
112230210 |
inframe deletion |
GTG/-
|
delins
|
8.0E-06
|
2.1E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1995 |
2016 |
rs1328320990
|
1.000 |
0.120 |
11 |
112228614 |
missense variant |
A/G
|
snv
|
|
1.4E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs370340361
|
1.000 |
0.120 |
11 |
112230639 |
missense variant |
C/T
|
snv
|
6.8E-05
|
1.4E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
1994 |
2015 |
rs145882709
|
1.000 |
0.120 |
11 |
112233216 |
stop gained |
C/A
|
snv
|
2.8E-05
|
1.4E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs104894274
|
1.000 |
0.120 |
11 |
112226489 |
missense variant |
C/T
|
snv
|
2.0E-05
|
1.4E-05
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1994 |
2001 |
rs747260038
|
1.000 |
0.120 |
11 |
112228626 |
frameshift variant |
TTTG/-
|
delins
|
4.0E-06
|
7.2E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2001 |
2013 |
rs104894279
|
0.925 |
0.120 |
11 |
112233464 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
12 |
1994 |
2001 |
rs104894279
|
0.925 |
0.120 |
11 |
112233464 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
|
|
0.700 |
|
0 |
|
|
rs1256819927
|
1.000 |
0.120 |
11 |
112230231 |
splice donor variant |
G/T
|
snv
|
4.0E-06
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs765406631
|
1.000 |
0.120 |
11 |
112233179 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1994 |
2013 |
rs104894275
|
0.882 |
0.120 |
11 |
112228665 |
missense variant |
A/G
|
snv
|
1.2E-04
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
1994 |
2017 |
rs104894275
|
0.882 |
0.120 |
11 |
112228665 |
missense variant |
A/G
|
snv
|
1.2E-04
|
7.0E-06
|
Hyperphenylalaninemia, Non-Phenylketonuric
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs104894275
|
0.882 |
0.120 |
11 |
112228665 |
missense variant |
A/G
|
snv
|
1.2E-04
|
7.0E-06
|
Hyperphenylalaninaemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
1998 |
1998 |
rs794726656
|
1.000 |
|
11 |
112233478 |
frameshift variant |
GTTCTTCCTGTAGG/-
|
del
|
|
7.0E-06
|
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
|
|
0.700 |
|
0 |
|
|
rs104894280
|
0.925 |
0.120 |
11 |
112233205 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
21 |
1994 |
2015 |
rs104894280
|
0.925 |
0.120 |
11 |
112233205 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Hyperphenylalaninaemia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
1998 |
1998 |
rs750455879
|
1.000 |
0.120 |
11 |
112233208 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1994 |
2001 |