CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Disease: Meconium ileus ×
Source: BEFREE ×
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: C2939175
Disease: Meconium ileus
Meconium ileus 		Digestive System Diseases 0.020 0.500 2 1996 1999
dbSNP: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		Digestive System Diseases 0.010 < 0.001 1 1999 1999
dbSNP: rs146521846
rs146521846 		0.925 0.120 7 117611794 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs397508185
rs397508185 		0.925 0.120 7 117548684 missense variant A/G snv 2.8E-05 2.8E-05
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs77010898
rs77010898 		0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		Digestive System Diseases 0.010 1.000 1 1992 1992