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: rs121908755
rs121908755 		0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908757
rs121908757 		0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908758
rs121908758 		0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908759
rs121908759 		0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs121908759
rs121908759 		0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs121908760
rs121908760 		0.925 0.160 7 117592292 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908761
rs121908761 		0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs121908761
rs121908761 		0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908761
rs121908761 		0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs121908763
rs121908763 		1.000 0.120 7 117627640 stop gained 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 0
dbSNP: rs121908766
rs121908766 		1.000 0.120 7 117627765 stop gained C/A;T snv 8.1E-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: rs121908767
rs121908767 		0.925 0.160 7 117610593 inframe deletion ATAGTG/- delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908768
rs121908768 		0.925 0.160 7 117540157 inframe deletion TCT/- delins 7.0E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908769
rs121908769 		0.925 0.160 7 117509128 frameshift variant TT/- delins 1.5E-04
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908770
rs121908770 		1.000 0.120 7 117531067 frameshift variant A/- 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: rs121908771
rs121908771 		0.925 0.160 7 117534316 frameshift variant T/-;TT delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908773
rs121908773 		1.000 0.120 7 117536607 frameshift variant AT/- 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: rs121908779
rs121908779 		0.925 0.160 7 117592090 frameshift variant CTCAAAACT/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: rs121908779
rs121908779 		0.925 0.160 7 117592090 frameshift variant CTCAAAACT/A delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908780
rs121908780 		0.925 0.160 7 117592140 frameshift variant GAAATTCAATCCT/AGAAA delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908784
rs121908784 		0.925 0.160 7 117642464 frameshift variant A/- del 1.4E-05
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908785
rs121908785 		0.925 0.160 7 117542050 frameshift variant -/TA delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908786
rs121908786 		0.925 0.160 7 117592213 frameshift variant AA/-;A;AAA;AAAA delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs121908788
rs121908788 		1.000 0.120 7 117603611 stop gained -/G ins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs121908789
rs121908789 		0.925 0.160 7 117642487 frameshift variant -/T delins 7.0E-06
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0