rs75527207
|
0.732 |
0.440 |
7 |
117587806 |
missense variant |
G/A
|
snv
|
1.8E-04
|
3.0E-04
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.900 |
0.980 |
99 |
1990 |
2020 |
rs78655421
|
0.716 |
0.240 |
7 |
117530975 |
missense variant |
G/A;C;T
|
snv
|
1.5E-03;
1.2E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.900 |
0.985 |
66 |
1992 |
2019 |
rs80034486
|
0.807 |
0.160 |
7 |
117652877 |
missense variant |
C/G
|
snv
|
1.4E-04
|
1.6E-04
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.900 |
0.966 |
59 |
1990 |
2019 |
rs74551128
|
0.807 |
0.160 |
7 |
117548795 |
missense variant |
C/A;T
|
snv
|
5.3E-05;
5.7E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.880 |
0.979 |
48 |
1990 |
2016 |
rs78655421
|
0.716 |
0.240 |
7 |
117530975 |
missense variant |
G/A;C;T
|
snv
|
1.5E-03;
1.2E-05
|
|
Congenital bilateral aplasia of vas deferens
|
Male Urogenital Diseases
|
0.880 |
1.000 |
14 |
1993 |
2014 |
rs121909011
|
0.807 |
0.160 |
7 |
117540230 |
missense variant |
C/T
|
snv
|
5.6E-05
|
9.1E-05
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.850 |
1.000 |
41 |
1990 |
2015 |
rs77932196
|
0.790 |
0.280 |
7 |
117540270 |
missense variant |
G/A;C;T
|
snv
|
2.4E-05;
2.4E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.840 |
1.000 |
28 |
1990 |
2015 |
rs193922525
|
1.000 |
0.120 |
7 |
117664770 |
missense variant |
G/A
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.840 |
1.000 |
22 |
1995 |
2017 |
rs35516286
|
0.851 |
0.160 |
7 |
117531068 |
missense variant |
T/A;C
|
snv
|
1.8E-03
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.840 |
1.000 |
18 |
2001 |
2017 |
rs121908755
|
0.882 |
0.200 |
7 |
117587800 |
missense variant |
G/A;T
|
snv
|
8.8E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.830 |
0.978 |
46 |
1990 |
2016 |
rs121908758
|
0.851 |
0.160 |
7 |
117590394 |
missense variant |
C/A
|
snv
|
8.0E-06
|
7.0E-06
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.830 |
1.000 |
43 |
1990 |
2015 |
rs75389940
|
0.882 |
0.120 |
7 |
117627753 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.830 |
1.000 |
17 |
2001 |
2017 |
rs121908751
|
0.925 |
0.160 |
7 |
117530899 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.820 |
1.000 |
41 |
1990 |
2015 |
rs121908803
|
0.925 |
0.160 |
7 |
117535281 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
7.0E-06
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.820 |
1.000 |
41 |
1990 |
2015 |
rs121909005
|
0.851 |
0.160 |
7 |
117587801 |
missense variant |
T/A;C;G
|
snv
|
4.0E-06;
8.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.820 |
1.000 |
40 |
1990 |
2016 |
rs80055610
|
0.851 |
0.160 |
7 |
117587833 |
missense variant |
G/A;C
|
snv
|
2.4E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.820 |
1.000 |
40 |
1990 |
2015 |
rs36210737
|
0.925 |
0.160 |
7 |
117611743 |
missense variant |
T/A;G
|
snv
|
1.6E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.820 |
1.000 |
38 |
1990 |
2015 |
rs368505753
|
0.925 |
0.160 |
7 |
117509069 |
missense variant |
C/T
|
snv
|
3.6E-05
|
3.5E-05
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.820 |
0.973 |
37 |
1990 |
2017 |
rs397508288
|
0.882 |
0.200 |
7 |
117590409 |
missense variant |
A/C;G
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.820 |
1.000 |
36 |
1990 |
2015 |
rs121908752
|
0.851 |
0.160 |
7 |
117535285 |
missense variant |
T/G
|
snv
|
1.9E-04
|
1.3E-04
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.820 |
1.000 |
33 |
1990 |
2014 |
rs74503330
|
0.925 |
0.160 |
7 |
117642472 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.820 |
1.000 |
2 |
1992 |
2016 |
rs75549581
|
0.925 |
0.160 |
7 |
117587829 |
missense variant |
G/A;T
|
snv
|
2.0E-05;
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.810 |
1.000 |
53 |
1990 |
2015 |
rs78194216
|
0.925 |
0.160 |
7 |
117611637 |
missense variant |
C/A;T
|
snv
|
3.2E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.810 |
1.000 |
38 |
1990 |
2015 |
rs397508139
|
0.882 |
0.160 |
7 |
117540237 |
missense variant |
T/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.810 |
1.000 |
37 |
1990 |
2015 |
rs397508276
|
0.925 |
0.160 |
7 |
117590378 |
missense variant |
T/C;G
|
snv
|
9.6E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.810 |
1.000 |
37 |
1990 |
2015 |