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.
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 1.000 0.120 14 78709310 missense variant A/G snv 1.4E-05 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 1.000 0.120 14 78709310 missense variant A/G snv 1.4E-05 0.700 0