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: C0030469
Disease: Paranasal Sinus Disorder
Paranasal Sinus Disorder 		Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2015 2019
dbSNP: rs121908755
rs121908755 		0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs213950
rs213950 		0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs75527207
rs75527207 		0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs77010898
rs77010898 		0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 0
dbSNP: rs74597325
rs74597325 		0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 0
dbSNP: rs74597325
rs74597325 		0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0238074
Disease: Chronic pulmonary heart disease
Chronic pulmonary heart disease 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.040 1.000 4 2000 2019
dbSNP: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.020 1.000 2 2004 2008
dbSNP: rs74551128
rs74551128 		0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.020 1.000 2 1995 1995
dbSNP: rs75527207
rs75527207 		0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.020 1.000 2 1995 2017
dbSNP: rs113857788
rs113857788 		0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121908757
rs121908757 		0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121909005
rs121909005 		0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 1999 1999
dbSNP: rs141723617
rs141723617 		1.000 0.040 7 117530999 missense variant T/C snv 7.1E-04 2.7E-04
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis 		Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs193922500
rs193922500 		0.851 0.160 7 117548798 missense variant T/C snv 2.0E-04 4.9E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs213950
rs213950 		0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs213950
rs213950 		0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2000 2000
dbSNP: rs397508638
rs397508638 		0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 < 0.001 1 1992 1992
dbSNP: rs74767530
rs74767530 		0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 1992 1992
dbSNP: rs75541969
rs75541969 		0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs75961395
rs75961395 		0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		Respiratory Tract Diseases 0.010 1.000 1 1996 1996