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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 1.000 2 166051871 frameshift variant C/- delins 0.700 1.000 19 1997 2014
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 2 166051871 frameshift variant C/- delins 0.700 1.000 19 1997 2014