rs397508288, 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 0.882 0.200 7 117590409 missense variant A/C;G snv 4.0E-06 0.820 1.000 2 1990 2015
Metabolic alkalosis
CUI: C0220983
Disease: Metabolic alkalosis
3 0.882 0.200 7 117590409 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2004 2004