rs1800863, RET

N. diseases: 4
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
0.020 GeneticVariation BEFREE Our results indicated that rs1800858, rs1800860, rs1800863, and rs2075912, located in exons 2, 7, 15, and intron 19 of RET, are strongly associated with the disease (P < 0.01), with rs1800860 and rs1800863 playing a protective role in the pathogenesis of HSCR in the Chinese population. 20454948 2010
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.020 GeneticVariation BEFREE In contrast, two other polymorphisms, G691S (c 2071C-->A) (exon 11) and S904S (c 2712C-->G) (exon 15), were under-represented in the HSCR patients compared to controls (p=0.02). 10528857 1999