CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75527207
rs75527207
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.900 0.980 99 1990 2020
dbSNP: rs78655421
rs78655421
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.900 0.985 66 1992 2019
dbSNP: rs80034486
rs80034486
0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.900 0.966 59 1990 2019
dbSNP: rs74551128
rs74551128
0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.880 0.979 48 1990 2016
dbSNP: rs78655421
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
dbSNP: rs121909011
rs121909011
0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.850 1.000 41 1990 2015
dbSNP: rs77932196
rs77932196
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.840 1.000 28 1990 2015
dbSNP: rs193922525
rs193922525
1.000 0.120 7 117664770 missense variant G/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.840 1.000 22 1995 2017
dbSNP: rs35516286
rs35516286
0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.840 1.000 18 2001 2017
dbSNP: rs121908755
rs121908755
0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.830 0.978 46 1990 2016
dbSNP: rs121908758
rs121908758
0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.830 1.000 43 1990 2015
dbSNP: rs75389940
rs75389940
0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.830 1.000 17 2001 2017
dbSNP: rs121908751
rs121908751
0.925 0.160 7 117530899 stop gained G/A;T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 1.000 41 1990 2015
dbSNP: rs121908803
rs121908803
0.925 0.160 7 117535281 missense variant C/A;T snv 4.0E-06 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 1.000 41 1990 2015
dbSNP: rs121909005
rs121909005
0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 1.000 40 1990 2016
dbSNP: rs80055610
rs80055610
0.851 0.160 7 117587833 missense variant G/A;C snv 2.4E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 1.000 40 1990 2015
dbSNP: rs36210737
rs36210737
0.925 0.160 7 117611743 missense variant T/A;G snv 1.6E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 1.000 38 1990 2015
dbSNP: rs368505753
rs368505753
0.925 0.160 7 117509069 missense variant C/T snv 3.6E-05 3.5E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 0.973 37 1990 2017
dbSNP: rs397508288
rs397508288
0.882 0.200 7 117590409 missense variant A/C;G snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 1.000 36 1990 2015
dbSNP: rs121908752
rs121908752
0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 1.000 33 1990 2014
dbSNP: rs74503330
rs74503330
0.925 0.160 7 117642472 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 1.000 2 1992 2016
dbSNP: rs75549581
rs75549581
0.925 0.160 7 117587829 missense variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.810 1.000 53 1990 2015
dbSNP: rs78194216
rs78194216
0.925 0.160 7 117611637 missense variant C/A;T snv 3.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.810 1.000 38 1990 2015
dbSNP: rs397508139
rs397508139
0.882 0.160 7 117540237 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.810 1.000 37 1990 2015
dbSNP: rs397508276
rs397508276
0.925 0.160 7 117590378 missense variant T/C;G snv 9.6E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.810 1.000 37 1990 2015