rs75961395, CFTR

N. diseases: 10
Source: ALL
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
704 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.810 1.000 36 1990 2015
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
26 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
Failure to Thrive
CUI: C0015544
Disease: Failure to Thrive
10 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
Failure to thrive in infant
CUI: C3887638
Disease: Failure to thrive in infant
4 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 1999 1999
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2004 2004
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
23 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 1996 1996
Congenital bilateral aplasia of vas deferens
210 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.700 0