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.
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
CUI: C4693799
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
1 0.882 0.120 4 185403540 missense variant T/G snv 0.800 1.000 2 2011 2018
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.882 0.120 4 185403540 missense variant T/G snv 0.700 1.000 1 2018 2018
HIP DYSPLASIA, BEUKES TYPE
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
6 0.882 0.120 4 185403540 missense variant T/G snv 0.700 1.000 1 2018 2018