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.
Achondrogenesis type 2
CUI: C0220685
Disease: Achondrogenesis type 2
14 0.925 0.080 12 47980017 missense variant C/G snv 0.800 1.000 8 1989 2007
Spondyloepiphyseal dysplasia, congenita
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
30 0.925 0.080 12 47980017 missense variant C/G snv 0.700 1.000 8 1989 2001