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.
Duodenal atresia
CUI: C0266174
Disease: Duodenal atresia
2 0.925 0.320 2 15942129 frameshift variant -/CGCT delins 0.700 0
FEINGOLD SYNDROME 1
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
12 0.925 0.320 2 15942129 frameshift variant -/CGCT delins 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.925 0.320 2 15942129 frameshift variant -/CGCT delins 0.700 0
Small anterior fontanelle
CUI: C1859455
Disease: Small anterior fontanelle
4 0.925 0.320 2 15942129 frameshift variant -/CGCT delins 0.700 0