Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs77932196
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.840 1.000 4 1990 2015
dbSNP: rs77932196
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		0.020 1.000 2 1992 1995
dbSNP: rs77932196
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		0.020 1.000 2 1992 1995
dbSNP: rs77932196
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		0.010 1.000 1 2012 2012
dbSNP: rs77932196
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.010 1.000 1 1995 1995
dbSNP: rs77932196
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.010 1.000 1 2012 2012
dbSNP: rs77932196
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.010 1.000 1 2012 2012