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.
Kowarski syndrome
CUI: C1849779
Disease: Kowarski syndrome
3 0.925 0.160 17 63917803 missense variant T/C snv 0.800 1.000 3 1996 2007
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.925 0.160 17 63917803 missense variant T/C snv 0.010 1.000 1 1997 1997