rs9282834, RET

N. diseases: 3
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
CUI: C0019569
Disease: Hirschsprung Disease
162 0.882 0.080 10 43111408 missense variant G/A snv 2.3E-03 6.6E-04 0.710 1.000 1 2016 2016
Congenital Intestinal Aganglionosis
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
16 0.882 0.080 10 43111408 missense variant G/A snv 2.3E-03 6.6E-04 0.700 1.000 1 2016 2016
Aganglionosis, Colonic
CUI: C0085758
Disease: Aganglionosis, Colonic
11 0.882 0.080 10 43111408 missense variant G/A snv 2.3E-03 6.6E-04 0.010 1.000 1 2013 2013