RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Disease: Hirschsprung Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9282834
rs9282834
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease:
Hirschsprung Disease 		A 0.710 GeneticVariation GWASCAT Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. 27702942 2016
dbSNP: rs9282834
rs9282834
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease:
Hirschsprung Disease 		0.710 GeneticVariation BEFREE When in trans with the RET intron 1 enhancer risk allele, rs9282834 increases the risk of HSCR from 1.1 to 26.7. 27702942 2016