rs77932196, CFTR

N. diseases: 7
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 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.840 1.000 4 1990 2015
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
23 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.020 1.000 2 1992 1995
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.020 1.000 2 1992 1995
Failure to Thrive
CUI: C0015544
Disease: Failure to Thrive
10 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.010 1.000 1 2012 2012
Failure to thrive in infant
CUI: C3887638
Disease: Failure to thrive in infant
4 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.010 1.000 1 2012 2012
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.010 1.000 1 1995 1995
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
4 0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 0.010 1.000 1 2012 2012