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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs397508136
rs397508136 		1.000 0.120 7 117480082 start lost CGAGAGACCATGCAGAGGTCGCC/- 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 2007 2007
dbSNP: rs397508328
rs397508328 		1.000 0.120 7 117480095 start lost A/G snv 2.0E-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 1993 2014
dbSNP: rs397508476
rs397508476 		1.000 0.120 7 117480096 start lost T/A;C;G snv 8.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 3 2005 2012
dbSNP: rs397508657
rs397508657 		1.000 0.120 7 117480097 start lost 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 0
dbSNP: rs1562876396
rs1562876396 		1.000 0.120 7 117480098 frameshift variant C/- 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: rs397508740
rs397508740 		1.000 0.120 7 117480098 stop gained 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 0.700 0
dbSNP: rs397508173
rs397508173 		1.000 0.120 7 117480105 stop gained C/A;T snv 5.2E-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 2 1993 1997
dbSNP: rs193922501
rs193922501 		0.925 0.160 7 117480108 missense variant C/T snv 2.4E-05 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 11 1997 2012
dbSNP: rs193922501
rs193922501 		0.925 0.160 7 117480108 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121909045
rs121909045 		1.000 0.120 7 117480113 stop gained G/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 0.700 0
dbSNP: rs397508635
rs397508635 		0.925 0.160 7 117480132 missense variant C/A;T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.810 1.000 34 1990 2015
dbSNP: rs397508635
rs397508635 		0.925 0.160 7 117480132 missense variant C/A;T snv
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs1562876459
rs1562876459 		1.000 0.120 7 117480138 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 0
dbSNP: rs397508714
rs397508714 		1.000 0.120 7 117480138 frameshift variant T/-;TT;TTT delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0