rs780355308, EDNRB

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.010 GeneticVariation BEFREE Therefore, we conclude that S390R and C109R mutations could cause HSCR but that N104I mutation might be polymorphous. 9556633 1998