rs397508288, CFTR

N. diseases: 3
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.
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.882 0.200 7 117590409 missense variant A/C;G snv 4.0E-06 0.820 1.000 36 1990 2015
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.882 0.200 7 117590409 missense variant A/C;G snv 4.0E-06 0.700 0
Metabolic alkalosis
CUI: C0220983
Disease: Metabolic alkalosis
5 0.882 0.200 7 117590409 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2004 2004