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.
BRACHYDACTYLY, TYPE A2
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
8 0.882 0.080 20 35434093 missense variant A/G snv 7.0E-06 0.800 0
Fibular hypoplasia and complex brachydactyly
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
4 0.882 0.080 20 35434093 missense variant A/G snv 7.0E-06 0.800 0
MULTIPLE SYNOSTOSES SYNDROME 2
CUI: C1832708
Disease: MULTIPLE SYNOSTOSES SYNDROME 2
3 0.882 0.080 20 35434093 missense variant A/G snv 7.0E-06 0.700 0