CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Atypical cystic fibrosis ×
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: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C4546077
Disease: Atypical cystic fibrosis
Atypical cystic fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs201124247
rs201124247 		0.882 0.160 7 117592008 missense variant A/G snv 3.1E-05
CUI: C4546077
Disease: Atypical cystic fibrosis
Atypical cystic fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs397508638
rs397508638 		0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C4546077
Disease: Atypical cystic fibrosis
Atypical cystic fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C4546077
Disease: Atypical cystic fibrosis
Atypical cystic fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs80034486
rs80034486 		0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04
CUI: C4546077
Disease: Atypical cystic fibrosis
Atypical cystic fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2007 2007