Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908568
rs121908568
AXIN2
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.020 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
dbSNP: rs121908568
rs121908568
AXIN2
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.020 GeneticVariation BEFREE We show that oligodontia and predisposition to cancer are caused by a nonsense mutation, Arg656Stop, in the Wnt-signaling regulator AXIN2. 15042511

2004