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.
Metaphyseal chondrodysplasia Schmid type
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
16 0.925 0.120 6 116120105 missense variant A/G snv 0.800 1.000 8 1994 2005
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.925 0.120 6 116120105 missense variant A/G snv 0.010 1.000 1 2018 2018