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.
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
CUI: C4225167
Disease: SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
1 0.882 0.080 2 173232359 missense variant T/G snv 0.800 1.000 1 2016 2016
Split foot
CUI: C0432028
Disease: Split foot
2 0.882 0.080 2 173232359 missense variant T/G snv 0.700 0
Split hand foot deformity 1
CUI: C2931019
Disease: Split hand foot deformity 1
8 0.882 0.080 2 173232359 missense variant T/G snv 0.700 0