rs1060501350
|
1.000 |
0.120 |
20 |
10641688 |
stop gained |
C/T
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060501351
|
1.000 |
0.120 |
20 |
10658619 |
stop gained |
A/T
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1060501352
|
1.000 |
0.120 |
20 |
10641532 |
stop gained |
G/T
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1294950721
|
0.807 |
0.360 |
20 |
10645355 |
splice donor variant |
C/A;T
|
snv
|
|
7.0E-06
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555827729
|
1.000 |
0.120 |
20 |
10641194 |
frameshift variant |
-/A
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555828546
|
1.000 |
0.120 |
20 |
10647966 |
frameshift variant |
-/G
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555829037
|
1.000 |
0.120 |
20 |
10652205 |
frameshift variant |
G/-
|
del
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555829660
|
1.000 |
0.120 |
20 |
10658528 |
missense variant |
A/G
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555830929
|
1.000 |
0.120 |
20 |
10672738 |
frameshift variant |
C/-
|
del
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1568791920
|
1.000 |
0.120 |
20 |
10641459 |
splice donor variant |
C/G
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1568792286
|
1.000 |
0.120 |
20 |
10641825 |
frameshift variant |
CA/-
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1568793309
|
0.882 |
0.120 |
20 |
10643851 |
frameshift variant |
G/-
|
del
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1568794128
|
1.000 |
0.120 |
20 |
10645196 |
frameshift variant |
-/C
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1568795820
|
1.000 |
0.120 |
20 |
10648024 |
frameshift variant |
G/-
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1568796241
|
1.000 |
0.120 |
20 |
10648670 |
frameshift variant |
TGA/G
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs28939668
|
0.807 |
0.200 |
20 |
10652533 |
missense variant |
C/T
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs35615084
|
1.000 |
0.120 |
20 |
10650275 |
frameshift variant |
-/G
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs533306015
|
1.000 |
0.120 |
20 |
10643818 |
stop gained |
G/A;T
|
snv
|
1.6E-05
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs566563238
|
1.000 |
0.120 |
20 |
10645391 |
missense variant |
C/T
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs769531968
|
0.925 |
0.120 |
20 |
10643807 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs797044956
|
1.000 |
0.120 |
20 |
10652548 |
missense variant |
G/A
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs863223649
|
1.000 |
0.120 |
20 |
10652227 |
stop gained |
G/A
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs876660978
|
1.000 |
0.120 |
20 |
10658468 |
frameshift variant |
CT/-
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs876660981
|
1.000 |
0.120 |
20 |
10648632 |
frameshift variant |
AG/-
|
del
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs878853752
|
1.000 |
0.120 |
20 |
10641480 |
frameshift variant |
-/A
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|