rs1800100, CFTR

N. diseases: 2
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.
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.925 0.160 7 117592169 missense variant C/A;T snv 6.0E-03 6.1E-03 0.700 1.000 6 1995 2007
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.925 0.160 7 117592169 missense variant C/A;T snv 6.0E-03 6.1E-03 0.010 1.000 1 2012 2012