rs1396707015
|
1.000 |
0.120 |
7 |
117535273 |
stop gained |
G/A
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs142920240
|
0.851 |
0.240 |
7 |
117540273 |
missense variant |
T/A
|
snv
|
1.4E-04
|
7.0E-05
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs144745159
|
1.000 |
0.120 |
7 |
117587770 |
missense variant |
T/C
|
snv
|
2.0E-05
|
7.0E-06
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs17140229
|
1.000 |
0.120 |
7 |
117590229 |
intron variant |
T/C
|
snv
|
|
9.9E-02
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1800080
|
0.925 |
0.120 |
7 |
117534330 |
missense variant |
A/G
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1800100
|
0.925 |
0.160 |
7 |
117592169 |
missense variant |
C/A;T
|
snv
|
6.0E-03
|
6.1E-03
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs186089140
|
0.925 |
0.160 |
7 |
117592377 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs191456345
|
0.925 |
0.160 |
7 |
117536576 |
missense variant |
A/G
|
snv
|
1.8E-04
|
1.1E-04
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs200901072
|
1.000 |
0.120 |
7 |
117603610 |
synonymous variant |
G/A;C;T
|
snv
|
4.8E-05;
8.0E-06;
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
< 0.001 |
1 |
1995 |
1995 |
rs397508185
|
0.925 |
0.120 |
7 |
117548684 |
missense variant |
A/G
|
snv
|
2.8E-05
|
2.8E-05
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs397508188
|
1.000 |
0.120 |
7 |
117548753 |
missense variant |
T/C
|
snv
|
4.1E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs397508198
|
1.000 |
0.120 |
7 |
117548823 |
missense variant |
G/A;T
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs397508323
|
1.000 |
0.120 |
7 |
117592133 |
stop gained |
G/C;T
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs397508369
|
1.000 |
0.120 |
7 |
117592513 |
missense variant |
C/A;T
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs397508527
|
1.000 |
0.120 |
7 |
117611719 |
missense variant |
T/C
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs397508599
|
1.000 |
0.120 |
7 |
117642450 |
missense variant |
G/A
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs397508725
|
1.000 |
0.120 |
7 |
117531098 |
missense variant |
G/A;C
|
snv
|
7.2E-05;
2.0E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs397508731
|
1.000 |
0.120 |
7 |
117531109 |
missense variant |
A/G
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
< 0.001 |
1 |
2018 |
2018 |
rs397508786
|
1.000 |
0.120 |
7 |
117535381 |
missense variant |
C/T
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs75053309
|
1.000 |
0.120 |
7 |
117540309 |
missense variant |
C/A;G;T
|
snv
|
1.0E-04
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs758675549
|
0.925 |
0.200 |
7 |
117530938 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs141033578
|
0.925 |
0.160 |
7 |
117606695 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.020 |
1.000 |
2 |
2013 |
2017 |
rs1800076
|
0.763 |
0.200 |
7 |
117509093 |
missense variant |
G/A;T
|
snv
|
1.5E-02;
8.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.020 |
1.000 |
2 |
1991 |
2011 |
rs202179988
|
0.925 |
0.160 |
7 |
117611649 |
missense variant |
C/T
|
snv
|
4.8E-05
|
2.8E-05
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.020 |
1.000 |
2 |
2008 |
2010 |
rs74571530
|
0.882 |
0.160 |
7 |
117559594 |
missense variant |
T/A;C;G
|
snv
|
9.4E-04
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.020 |
1.000 |
2 |
1992 |
2008 |