Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908120
rs121908120
WNT10A
0.810 GeneticVariation BEFREE Among them, the stop codon p.C107* as well as the biallelic p.F228I variants correlate with the most severe oligodontia phenotypes. 30426266

2019
dbSNP: rs121908120
rs121908120
WNT10A
A 0.810 GeneticVariation GWASCAT Rare and Common Variants Conferring Risk of Tooth Agenesis. 29364747

2018
dbSNP: rs121908120
rs121908120
WNT10A
A 0.810 CausalMutation CLINVAR

dbSNP: rs515726227
rs515726227
MSX1
CAT 0.710 CausalMutation CLINVAR In this study, we identified a novel heterozygous non-stop mutation (c.910_911dupTA, p.*304Tyrext*48) in MSX1 in a Chinese family with autosomal dominant non-syndromic oligodontia. 24914010

2014
dbSNP: rs515726227
rs515726227
MSX1
0.710 GeneticVariation BEFREE In this study, we identified a novel heterozygous non-stop mutation (c.910_911dupTA, p.*304Tyrext*48) in MSX1 in a Chinese family with autosomal dominant non-syndromic oligodontia. 24914010

2014
dbSNP: rs515726227
rs515726227
MSX1
CAT 0.710 CausalMutation CLINVAR A human MSX1 homeodomain missense mutation causes selective tooth agenesis. 8696335

1996
dbSNP: rs2034604
rs2034604
ARHGAP15
T 0.700 GeneticVariation GWASCAT Rare and Common Variants Conferring Risk of Tooth Agenesis. 29364747

2018
dbSNP: rs35822372
rs35822372 		T 0.700 GeneticVariation GWASCAT Rare and Common Variants Conferring Risk of Tooth Agenesis. 29364747

2018
dbSNP: rs35956082
rs35956082
FOXP1
A 0.700 GeneticVariation GWASCAT Rare and Common Variants Conferring Risk of Tooth Agenesis. 29364747

2018
dbSNP: rs4498834
rs4498834
CACNA1S
C 0.700 GeneticVariation GWASCAT Rare and Common Variants Conferring Risk of Tooth Agenesis. 29364747

2018
dbSNP: rs55846652
rs55846652 		T 0.700 GeneticVariation GWASCAT Rare and Common Variants Conferring Risk of Tooth Agenesis. 29364747

2018
dbSNP: rs758468472
rs758468472
NOL11 ; LOC101928045
G 0.700 GeneticVariation GWASCAT Rare and Common Variants Conferring Risk of Tooth Agenesis. 29364747

2018
dbSNP: rs917412
rs917412 		T 0.700 GeneticVariation GWASCAT Rare and Common Variants Conferring Risk of Tooth Agenesis. 29364747

2018
dbSNP: rs876657641
rs876657641
EDA
A 0.700 GeneticVariation CLINVAR Oligodontia and curly hair occur with ectodysplasin-a mutations. 24487376

2014
dbSNP: rs1555316704
rs1555316704
PAX9 ; LOC105370455
A 0.700 CausalMutation CLINVAR Mutations in WNT10A are present in more than half of isolated hypodontia cases. 22581971

2012
dbSNP: rs397516654
rs397516654
EDA
C 0.700 GeneticVariation CLINVAR Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. 19623212

2010
dbSNP: rs797044484
rs797044484
TP63
G 0.700 CausalMutation CLINVAR Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. 19903181

2010
dbSNP: rs876657641
rs876657641
EDA
A 0.700 GeneticVariation CLINVAR EDA gene mutations underlie non-syndromic oligodontia. 19278982

2009
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692034
rs1131692034
EDA
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908568
rs121908568
AXIN2
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: rs730882193
rs730882193
AXIN2
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
dbSNP: rs11001553
rs11001553
DKK1 ; PRKG1-AS1
0.020 GeneticVariation BEFREE In a previous study, we found that polymorphism in rs11001553 of DKK1 was associated with hypodontia in the Chinese Han population. 24737523

2014
dbSNP: rs4904210
rs4904210
PAX9
0.020 GeneticVariation BEFREE In addition, the C allele and C carrier (CG + CC) of 718C, IVS2-109, rs4904210, and rs7143727 showed no significant association with oligodontia. 25501211

2014
dbSNP: rs11001553
rs11001553
DKK1 ; PRKG1-AS1
0.020 GeneticVariation BEFREE A significant difference was observed, between subjects with non-syndromic hypodontia and controls, in the allele and genotype frequencies of two markers [rs929387 of GLI family zinc finger 3 (GLI3) and rs11001553 of Dickkopf-related protein 1 (DKK1)]. 22984994

2012