rs16879552, NRG1

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 8 32553698 intron variant C/T snv 0.10 0.850 0.833 6 2009 2019
Congenital Intestinal Aganglionosis
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
16 0.882 0.080 8 32553698 intron variant C/T snv 0.10 0.700 1.000 1 2009 2009
Aganglionosis, Colonic
CUI: C0085758
Disease: Aganglionosis, Colonic
11 0.882 0.080 8 32553698 intron variant C/T snv 0.10 0.010 1.000 1 2017 2017