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: rs73715573
rs73715573 		0.925 0.160 7 117548630 intron variant T/G snv 8.6E-03; 5.9E-05 9.0E-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 10 1992 2007
dbSNP: rs73715573
rs73715573 		0.925 0.160 7 117548630 intron variant T/G snv 8.6E-03; 5.9E-05 9.0E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 1.000 10 1992 2007
dbSNP: rs75039782
rs75039782 		0.851 0.160 7 117639961 intron variant C/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 1.000 4 1994 2016
dbSNP: rs76151804
rs76151804 		0.925 0.160 7 117611555 intron variant A/G snv 4.2E-05 6.3E-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 4 1999 2013
dbSNP: rs397508266
rs397508266 		0.851 0.160 7 117589467 intron variant A/G snv 2.8E-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 3 1995 2015
dbSNP: rs39312
rs39312 		7 117314731 intron variant A/C snv 0.43
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2018 2019
dbSNP: rs397508261
rs397508261 		1.000 0.120 7 117589476 intron variant G/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 1.000 2 2012 2016
dbSNP: rs10249651
rs10249651 		1.000 0.040 7 117424571 intron variant T/C snv 0.40
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs10487372
rs10487372 		0.882 0.080 7 117560845 intron variant C/T snv 0.13
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10487372
rs10487372 		0.882 0.080 7 117560845 intron variant C/T snv 0.13
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10487372
rs10487372 		0.882 0.080 7 117560845 intron variant C/T snv 0.13
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs114167782
rs114167782 		7 117299233 intron variant C/T snv 3.0E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs114167782
rs114167782 		7 117299233 intron variant C/T snv 3.0E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs1554388867
rs1554388867 		1.000 0.120 7 117589470 intron 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 1.000 1 2015 2015
dbSNP: rs17140229
rs17140229 		1.000 0.120 7 117590229 intron variant T/C snv 9.9E-02
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17451754
rs17451754 		0.925 0.080 7 117616658 intron variant G/A snv 0.10
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2016 2016
dbSNP: rs17451754
rs17451754 		0.925 0.080 7 117616658 intron variant G/A snv 0.10
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs2188554
rs2188554 		1.000 0.080 7 117400063 intron variant A/G snv 0.20
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs3779547
rs3779547 		1.000 0.040 7 117290908 intron variant A/G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs39315
rs39315 		1.000 0.080 7 117323508 intron variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs39315
rs39315 		1.000 0.080 7 117323508 intron variant T/C;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs4727847
rs4727847 		1.000 0.040 7 117288317 intron variant T/C;G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs7805063
rs7805063 		7 117401015 intron variant C/T snv 0.54
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs7808424
rs7808424 		1.000 0.040 7 117427768 intron variant T/G snv 0.11
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs975722
rs975722 		1.000 0.040 7 117692860 intron variant A/G snv 0.53
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018