rs267606723, 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.
Enterocutaneous Fistula
CUI: C0341318
Disease: Enterocutaneous Fistula
1 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1 2017 2017
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
38 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 0
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 0
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 0
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.810 1.000 26 1991 2015