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 0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06 0.800 1.000 3 1996 2007
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06 0.010 1 2007 2007
Failure to Thrive
CUI: C0015544
Disease: Failure to Thrive
10 0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06 0.010 1 2007 2007
Growth failure
CUI: C0878787
Disease: Growth failure
7 0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06 0.010 1 2007 2007