rs111033539
|
0.925 |
0.080 |
2 |
233767160 |
stop gained |
C/T
|
snv
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1349037761
|
0.925 |
0.080 |
2 |
233768262 |
missense variant |
A/G
|
snv
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs139607673
|
0.925 |
0.080 |
2 |
233767858 |
missense variant |
C/T
|
snv
|
8.0E-06;
4.0E-06
|
1.4E-05
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1476500325
|
0.925 |
0.080 |
2 |
233772338 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553620849
|
1.000 |
0.080 |
2 |
233760895 |
inframe deletion |
CATGACCTTCCTGCAGCGGGTGAA/-
|
delins
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs281865418
|
0.882 |
0.080 |
2 |
233761127 |
stop gained |
C/A;G
|
snv
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs34946978
|
0.851 |
0.120 |
2 |
233768226 |
missense variant |
C/G;T
|
snv
|
1.2E-03
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs34993780
|
0.827 |
0.120 |
2 |
233772413 |
missense variant |
T/A;C;G
|
snv
|
2.2E-04
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587776761
|
1.000 |
0.080 |
2 |
233767046 |
frameshift variant |
TACATTAATGCTTC/A
|
delins
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587776762
|
1.000 |
0.080 |
2 |
233760795 |
inframe deletion |
CTT/-
|
delins
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587776763
|
1.000 |
0.080 |
2 |
233760761 |
frameshift variant |
-/T
|
ins
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587776764
|
1.000 |
0.080 |
2 |
233761152 |
splice donor variant |
G/C
|
snv
|
|
2.1E-05
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587776765
|
1.000 |
0.080 |
2 |
233760432 |
stop gained |
C/T
|
snv
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587776766
|
1.000 |
0.080 |
2 |
233768218 |
splice acceptor variant |
A/G
|
snv
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs72551343
|
0.925 |
0.080 |
2 |
233760912 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06;
3.2E-05
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs748219743
|
1.000 |
0.080 |
2 |
233760634 |
frameshift variant |
-/A
|
delins
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs766536479
|
1.000 |
0.080 |
2 |
233760908 |
frameshift variant |
-/CAGC
|
delins
|
1.2E-05
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs901936528
|
1.000 |
0.080 |
2 |
233768294 |
missense variant |
C/T
|
snv
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs62625011
|
0.925 |
0.080 |
2 |
233767092 |
missense variant |
G/A
|
snv
|
1.2E-05
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
11 |
1992 |
2013 |
rs72551351
|
1.000 |
0.080 |
2 |
233767922 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
11 |
1992 |
2013 |
rs1283652721
|
0.925 |
0.080 |
2 |
233768265 |
missense variant |
G/T
|
snv
|
|
7.0E-06
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1992 |
2013 |
rs367897068
|
1.000 |
0.080 |
2 |
233768319 |
missense variant |
G/A;C;T
|
snv
|
6.4E-05;
1.6E-05
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1992 |
2013 |
rs72551339
|
1.000 |
0.080 |
2 |
233760402 |
missense variant |
C/G
|
snv
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1992 |
2013 |
rs72551342
|
1.000 |
0.080 |
2 |
233760816 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1992 |
2013 |
rs72551345
|
1.000 |
0.080 |
2 |
233761113 |
missense variant |
G/C;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1992 |
2013 |