rs730882193, AXIN2

N. diseases: 6
Disease: Oligodontia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Oligodontia
CUI: C4082304
Disease: Oligodontia
0.020 GeneticVariation BEFREE Heterozygous, germline nonsense mutations in AXIN2 have been reported in two families with oligodontia and colorectal cancer (CRC) predisposition, including an AXIN2 1989G>A mutation. 26025668 2015
Oligodontia
CUI: C4082304
Disease: Oligodontia
0.020 GeneticVariation BEFREE We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers. 21416598 2011