rs121918351
|
0.882 |
0.240 |
20 |
10658611 |
missense variant |
C/T
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
17 |
1997 |
2015 |
rs1032920906
|
1.000 |
0.120 |
20 |
10672702 |
missense variant |
G/C
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
14 |
1997 |
2013 |
rs121918350
|
1.000 |
0.120 |
20 |
10658612 |
missense variant |
G/A
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
14 |
1997 |
2013 |
rs121918352
|
1.000 |
0.120 |
20 |
10672978 |
missense variant |
A/G
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
14 |
1997 |
2013 |
rs1282498658
|
1.000 |
0.120 |
20 |
10672721 |
missense variant |
G/A
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
14 |
1997 |
2013 |
rs1555829676
|
1.000 |
0.120 |
20 |
10658674 |
missense variant |
G/C
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
14 |
1997 |
2013 |
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 |
rs876661123
|
1.000 |
0.120 |
20 |
10672991 |
missense variant |
C/T
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
14 |
1997 |
2013 |
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 |
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 |
rs28939668
|
0.807 |
0.200 |
20 |
10652533 |
missense variant |
C/T
|
snv
|
|
|
Tetralogy of Fallot
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.830 |
1.000 |
4 |
2001 |
2010 |
rs727504412
|
0.925 |
0.120 |
20 |
10645245 |
frameshift variant |
ACTG/-
|
delins
|
|
|
Congenital Heart Defects
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
1997 |
2005 |
rs727504412
|
0.925 |
0.120 |
20 |
10645245 |
frameshift variant |
ACTG/-
|
delins
|
|
|
Alagille Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
4 |
1997 |
2005 |
rs876660980
|
1.000 |
0.120 |
20 |
10656450 |
stop gained |
G/A;C
|
snv
|
4.0E-06
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
1998 |
2015 |
rs121918353
|
1.000 |
0.200 |
20 |
10656452 |
missense variant |
C/T
|
snv
|
|
|
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
2 |
2002 |
2010 |
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 |
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 |
rs769531968
|
0.925 |
0.120 |
20 |
10643807 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Tetralogy of Fallot
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.800 |
1.000 |
2 |
2001 |
2010 |
rs863223650
|
1.000 |
0.120 |
20 |
10650325 |
missense variant |
C/T
|
snv
|
|
|
Alagille Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2000 |
2012 |
rs1051419
|
1.000 |
0.120 |
20 |
10639738 |
stop gained |
A/C;G
|
snv
|
0.65
|
|
Alagille Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1131695
|
1.000 |
0.080 |
20 |
10652589 |
stop gained |
G/A;C;T
|
snv
|
0.46
|
|
Tetralogy of Fallot
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs12625256
|
|
|
20 |
10657738 |
intron variant |
A/T
|
snv
|
|
0.37
|
Uric acid measurement (procedure)
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs145895196
|
0.925 |
0.120 |
20 |
10641566 |
missense variant |
C/A;T
|
snv
|
1.6E-05;
1.9E-03
|
|
Tetralogy of Fallot
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs145895196
|
0.925 |
0.120 |
20 |
10641566 |
missense variant |
C/A;T
|
snv
|
1.6E-05;
1.9E-03
|
|
Alagille Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
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 |