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.
Hyperchloremia
CUI: C0085679
Disease: Hyperchloremia
2 0.882 0.240 18 49837750 frameshift variant G/- delins 0.700 0
Microvillus inclusion disease
CUI: C0341306
Disease: Microvillus inclusion disease
16 0.882 0.240 18 49837750 frameshift variant G/- delins 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.882 0.240 18 49837750 frameshift variant G/- delins 0.700 0
Secretory diarrhea
CUI: C0267557
Disease: Secretory diarrhea
2 0.882 0.240 18 49837750 frameshift variant G/- delins 0.700 0