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 |
rs72551353
|
1.000 |
0.080 |
2 |
233768259 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
10 |
1992 |
2013 |
rs72551340
|
1.000 |
0.080 |
2 |
233760509 |
stop gained |
C/A
|
snv
|
4.0E-06
|
1.0E-04
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
1 |
2019 |
2019 |
rs72551349
|
0.925 |
0.080 |
2 |
233767873 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
2.8E-05
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
1 |
2019 |
2019 |
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 |
rs72551352
|
1.000 |
0.080 |
2 |
233768237 |
missense variant |
G/A
|
snv
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1992 |
2013 |
rs72551354
|
1.000 |
0.080 |
2 |
233768278 |
missense variant |
C/G;T
|
snv
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1992 |
2013 |
rs72551355
|
1.000 |
0.080 |
2 |
233768336 |
missense variant |
G/C
|
snv
|
|
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1992 |
2013 |
rs72551356
|
1.000 |
0.080 |
2 |
233768417 |
missense variant |
A/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 |
rs750453538
|
1.000 |
0.080 |
2 |
233767859 |
missense variant |
G/A;C
|
snv
|
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 |
rs758873309
|
1.000 |
0.080 |
2 |
233767044 |
missense variant |
C/A;G;T
|
snv
|
4.0E-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 |
rs35003977
|
0.925 |
0.080 |
2 |
233760961 |
missense variant |
T/G
|
snv
|
5.9E-04
|
3.6E-04
|
Crigler Najjar syndrome, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2000 |
2015 |
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 |
|
|