Gene: AXIN2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2240308
rs2240308
AXIN2
0.010 GeneticVariation BEFREE The presence of the variant A allele of AXIN2 rs2240308 is associated with frontal agenesis but not with lateral agenesis. 31781599

2019
dbSNP: rs121908568
rs121908568
AXIN2
0.010 GeneticVariation BEFREE We analysed this novel AXIN2 mutant, together with two reported AXIN2 mutants [c.1966C>T (p.Arg656Stop) and c.1994delG (p.Leu688Stop)] that cause colorectal cancer with and without oligodontia, to study the effect of the mutant p.His660Tyr on the Wnt/β-catenin signaling pathway and to compare the molecular pathogenesis of different AXIN2 mutants in tooth agenesis and carcinogenesis. 27090353

2016