rs121908759, CFTR

N. diseases: 2
Source: BEFREE ×
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
162 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.710 1.000 1 2008 2015
Classical cystic fibrosis
CUI: C4546076
Disease: Classical cystic fibrosis
3 0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04 0.010 1.000 1 2015 2015