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: rs1057516216
rs1057516216
1.000 0.120 7 117592659 splice donor variant T/C snv 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057516232
rs1057516232
1.000 0.120 7 117504255 stop gained G/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1057516236
rs1057516236
1.000 0.120 7 117592596 frameshift variant G/- del
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057516387
rs1057516387
1.000 0.120 7 117540116 frameshift variant -/TC delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057516415
rs1057516415
1.000 0.120 7 117610522 frameshift variant T/- delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057516457
rs1057516457
0.925 0.160 7 117664711 frameshift variant CA/- delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057516609
rs1057516609
1.000 0.120 7 117627586 stop gained C/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057516619
rs1057516619
1.000 0.120 7 117536669 stop gained A/T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 < 0.001 1 2017 2017
dbSNP: rs1057516646
rs1057516646
1.000 0.120 7 117536546 splice acceptor variant A/G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057516970
rs1057516970
1.000 0.120 7 117627548 frameshift variant G/- del
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057517032
rs1057517032
1.000 0.120 7 117603725 frameshift variant A/- delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057517068
rs1057517068
1.000 0.120 7 117594992 frameshift variant -/T delins 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 6 2000 2016
dbSNP: rs1057517276
rs1057517276
1.000 0.120 7 117592649 frameshift variant -/A delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057517342
rs1057517342
1.000 0.120 7 117535406 splice donor variant -/TACA delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1057517404
rs1057517404
1.000 0.120 7 117642569 frameshift variant -/AA delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1060503164
rs1060503164
1.000 0.120 7 117603783 splice donor variant G/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 3 2003 2016
dbSNP: rs113857788
rs113857788
0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 8 1996 2017
dbSNP: rs113993958
rs113993958
0.882 0.200 7 117530953 missense variant G/A;C;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 0.800 1.000 35 1990 2015
dbSNP: rs113993959
rs113993959
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 17 1991 2018
dbSNP: rs113993960
rs113993960
0.827 0.160 7 117559591 inframe deletion CTT/- delins 8.0E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 12 1989 2014
dbSNP: rs115545701
rs115545701
0.925 0.160 7 117509089 missense variant C/T snv 1.5E-03 4.3E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 1 2010 2010
dbSNP: rs1177201180
rs1177201180
1.000 0.120 7 117592160 missense variant A/T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs11971167
rs11971167
0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.730 0.941 17 2001 2017
dbSNP: rs1199914684
rs1199914684
1.000 0.120 7 117536639 stop gained G/T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1204521684
rs1204521684
1.000 0.120 7 117540180 missense variant T/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 0.700 0