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.
Anhydramnios
CUI: C0730379
Disease: Anhydramnios
1 0.882 0.120 19 45227667 frameshift variant -/G delins 0.700 0
Dandy-Walker Syndrome
CUI: C0010964
Disease: Dandy-Walker Syndrome
9 0.882 0.120 19 45227667 frameshift variant -/G delins 0.700 0
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.882 0.120 19 45227667 frameshift variant -/G delins 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.882 0.120 19 45227667 frameshift variant -/G delins 0.700 0