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.
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
CUI: C1838564
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
6 0.925 0.080 13 77901185 stop gained C/G;T snv 4.0E-06 0.700 0
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.925 0.080 13 77901185 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 1997 1997