rs1555827653
|
1.000 |
0.120 |
20 |
10640815 |
frameshift variant |
ACTT/-
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
1999 |
2016 |
rs372984801
|
1.000 |
0.120 |
20 |
10641155 |
stop gained |
G/A;T
|
snv
|
2.4E-05
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
1999 |
2015 |
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs1060501349
|
1.000 |
0.120 |
20 |
10641536 |
frameshift variant |
T/-
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555827769
|
1.000 |
0.120 |
20 |
10641588 |
frameshift variant |
AGGGGTGGACGAAGC/TGCCCTGG
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs876661122
|
1.000 |
0.120 |
20 |
10641671 |
missense variant |
C/G
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
14 |
1997 |
2013 |
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 |
|
|
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 |
|
|
rs1437309558
|
1.000 |
0.120 |
20 |
10642587 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
1998 |
2015 |
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 |
|
|
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 |
|
|
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 |
|
|
rs886039887
|
1.000 |
0.120 |
20 |
10644864 |
frameshift variant |
-/T
|
delins
|
|
|
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 |
|
|
rs727504412
|
0.925 |
0.120 |
20 |
10645245 |
frameshift variant |
ACTG/-
|
delins
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
1997 |
2015 |
rs886044704
|
1.000 |
0.120 |
20 |
10645351 |
splice region variant |
C/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 |
|
|
rs886039393
|
1.000 |
0.120 |
20 |
10645369 |
frameshift variant |
TTTCC/-
|
delins
|
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|