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.
Spondyloepiphyseal dysplasia, congenita
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
30 0.925 0.080 12 47980616 missense variant C/T snv 0.700 0
Avascular Necrosis of Femur Head
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
20 0.925 0.080 12 47980616 missense variant C/T snv 0.010 1.000 1 2014 2014
Legg-Calve-Perthes Disease
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
9 0.925 0.080 12 47980616 missense variant C/T snv 0.010 1.000 1 2014 2014