rs77010898, CFTR

N. diseases: 11
Source: BEFREE ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
162 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.800 1.000 11 1989 2019
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
28 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.710 1.000 1 2011 2011
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
23 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.020 1.000 2 1992 1992
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.020 1.000 2 1992 1992
Asthma
CUI: C0004096
Disease: Asthma
714 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.010 1.000 1 2014 2014
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
316 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.010 1.000 1 2005 2005
Lung Diseases, Obstructive
CUI: C0600260
Disease: Lung Diseases, Obstructive
4 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.010 1.000 1 2000 2000
Meconium ileus
CUI: C2939175
Disease: Meconium ileus
11 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.010 1.000 1 1992 1992
Pancreatic Diseases
CUI: C0030286
Disease: Pancreatic Diseases
9 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.010 1.000 1 1993 1993
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
31 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.010 1.000 1 2011 2011
PATENT DUCTUS ARTERIOSUS 1
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
12 0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06 0.010 1.000 1 2011 2011