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: rs121909033
rs121909033 		1.000 0.120 7 117592110 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 0.800 1.000 34 1990 2015
dbSNP: rs121909035
rs121909035 		1.000 0.120 7 117603719 missense variant C/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 0.800 1.000 34 1990 2015
dbSNP: rs121909037
rs121909037 		1.000 0.120 7 117611653 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 0.800 1.000 34 1990 2015
dbSNP: rs121909042
rs121909042 		1.000 0.120 7 117652875 missense variant A/C;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 0.800 1.000 34 1990 2015
dbSNP: rs142394380
rs142394380 		0.925 0.160 7 117611622 missense variant G/C 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 0.800 1.000 34 1990 2015
dbSNP: rs201978662
rs201978662 		1.000 0.120 7 117592004 missense variant G/A snv 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs397508146
rs397508146 		1.000 0.120 7 117540267 missense variant T/C snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs397508223
rs397508223 		1.000 0.120 7 117559581 stop gained G/C;T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs397508272
rs397508272 		1.000 0.120 7 117509038 missense variant T/C;G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs397508277
rs397508277 		1.000 0.120 7 117590379 missense variant A/G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs397508378
rs397508378 		0.925 0.160 7 117592631 stop gained G/A;T snv 5.2E-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 34 1990 2015
dbSNP: rs397508480
rs397508480 		0.925 0.160 7 117610547 missense variant C/A snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs397508616
rs397508616 		1.000 0.120 7 117642564 missense variant T/C;G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs76371115
rs76371115 		0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-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 34 1990 2015
dbSNP: rs121909020
rs121909020 		1.000 0.120 7 117611640 missense variant G/A;C 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 1.000 34 1990 2015
dbSNP: rs121909040
rs121909040 		1.000 0.120 7 117642466 missense variant G/A 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 1.000 34 1990 2015
dbSNP: rs145540754
rs145540754 		1.000 0.120 7 117592246 missense variant T/G snv 7.2E-05; 8.0E-06 3.1E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 34 1990 2015
dbSNP: rs150691494
rs150691494 		1.000 0.120 7 117540132 missense variant A/G snv 2.9E-04 1.8E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 34 1990 2015
dbSNP: rs193922506
rs193922506 		1.000 0.120 7 117595036 missense variant G/A snv 4.8E-05 4.9E-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 34 1990 2015
dbSNP: rs397508280
rs397508280 		1.000 0.120 7 117590385 missense variant T/C 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 34 1990 2015
dbSNP: rs397508306
rs397508306 		1.000 0.120 7 117591968 missense variant A/G;T snv 4.3E-06; 4.3E-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 34 1990 2015
dbSNP: rs397508311
rs397508311 		1.000 0.120 7 117591996 missense variant T/C 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 34 1990 2015
dbSNP: rs397508313
rs397508313 		1.000 0.120 7 117592023 missense variant T/C 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 34 1990 2015
dbSNP: rs397508314
rs397508314 		1.000 0.120 7 117592026 missense variant A/C;G;T snv 8.6E-06; 4.3E-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 34 1990 2015
dbSNP: rs397508315
rs397508315 		1.000 0.120 7 117592027 missense variant T/G 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 34 1990 2015