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.
Anorectal Malformations
CUI: C3495676
Disease: Anorectal Malformations
6 1.000 0.080 4 144659723 missense variant C/T snv 8.5E-05 2.1E-05 0.010 1 2016 2016
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 1.000 0.080 4 144659723 missense variant C/T snv 8.5E-05 2.1E-05 0.010 1.000 1 2016 2016