rs121909044, 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 0.925 0.200 7 117587812 missense variant G/A;C snv 4.0E-06 0.710 1.000 1 1990 2015
Bone Cysts, Aneurysmal
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
5 0.925 0.200 7 117587812 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2009 2009