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 0.882 0.080 13 77901181 missense variant C/A snv 2.8E-05 0.800 1.000 5 1994 2017
WAARDENBURG SYNDROME, TYPE 4A
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
11 0.882 0.080 13 77901181 missense variant C/A snv 2.8E-05 0.700 0
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
162 0.882 0.080 13 77901181 missense variant C/A snv 2.8E-05 0.010 1.000 1 1994 1994