rs113857788, CFTR

N. diseases: 5
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 0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 0.700 1.000 8 1996 2017
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
CUI: C1865433
Disease: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
4 0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 0.700 0
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 0.010 1.000 1 2013 2013
Pancreatitis, Alcoholic
CUI: C0376670
Disease: Pancreatitis, Alcoholic
86 0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 0.010 1 2005 2005
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
56 0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05 0.010 1.000 1 2005 2005