rs35082717
|
|
|
11 |
112239368 |
intron variant |
T/A;G
|
snv
|
|
|
Interleukin 18 Measurement
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs794726656
|
1.000 |
|
11 |
112233478 |
frameshift variant |
GTTCTTCCTGTAGG/-
|
del
|
|
7.0E-06
|
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
|
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |
rs104894276
|
0.882 |
0.120 |
11 |
112233178 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
7.6E-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 |
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 |
rs104894277
|
0.925 |
0.120 |
11 |
112230210 |
missense variant |
G/A;C
|
snv
|
1.6E-05;
8.0E-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 |
2014 |
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 |
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 |
rs104894273
|
1.000 |
0.120 |
11 |
112226517 |
missense variant |
G/A
|
snv
|
|
|
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 |
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 |
rs104894278
|
0.925 |
0.120 |
11 |
112228649 |
missense variant |
A/G
|
snv
|
4.0E-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 |
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 |
rs1317230624
|
1.000 |
0.120 |
11 |
112226521 |
missense variant |
G/T
|
snv
|
1.0E-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 |
rs1449216377
|
1.000 |
0.120 |
11 |
112228618 |
missense variant |
C/G
|
snv
|
4.1E-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 |
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 |
rs1555198458
|
1.000 |
0.120 |
11 |
112233215 |
missense variant |
A/G
|
snv
|
|
|
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 |
rs1555198495
|
1.000 |
0.120 |
11 |
112233457 |
missense variant |
A/G
|
snv
|
|
|
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 |
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 |
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 |
rs1230781262
|
1.000 |
0.120 |
11 |
112228591 |
splice region variant |
C/G;T
|
snv
|
2.4E-04
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1997 |
2017 |
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 |
rs1167104933
|
0.925 |
0.120 |
11 |
112226516 |
stop gained |
C/G;T
|
snv
|
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
1998 |
2013 |
rs780332520
|
1.000 |
0.120 |
11 |
112233507 |
frameshift variant |
A/-
|
delins
|
1.6E-05
|
|
6-pyruvoyl-tetrahydropterin synthase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2009 |
2010 |