rs2565200, RET

N. diseases: 2
Disease: Hirschsprung Disease ×
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
0.710 GeneticVariation BEFREE Particularly variant alleles of rs1864410, rs2435357, rs2506004 (intron 1), rs1800858 (exon 2), rs1800861 (exon 13), and rs2565200 (intron 19) were strongly associated with increased risk of HSCR (p<0.00000) and were over-represented in males vs. females. 24897126 2014
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.710 GeneticVariation GWASDB Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. 19196962 2009