|
rs121908120
|
|
|
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 |
|
rs121908120
|
|
A |
0.810 |
GeneticVariation |
GWASCAT |
Rare and Common Variants Conferring Risk of Tooth Agenesis.
|
29364747 |
2018 |
|
rs515726227
|
|
|
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 |
|
rs2034604
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Rare and Common Variants Conferring Risk of Tooth Agenesis.
|
29364747 |
2018 |
|
rs35822372
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Rare and Common Variants Conferring Risk of Tooth Agenesis.
|
29364747 |
2018 |
|
rs35956082
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Rare and Common Variants Conferring Risk of Tooth Agenesis.
|
29364747 |
2018 |
|
rs397516654
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.
|
19623212 |
2010 |
|
rs4498834
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Rare and Common Variants Conferring Risk of Tooth Agenesis.
|
29364747 |
2018 |
|
rs55846652
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Rare and Common Variants Conferring Risk of Tooth Agenesis.
|
29364747 |
2018 |
|
rs758468472
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Rare and Common Variants Conferring Risk of Tooth Agenesis.
|
29364747 |
2018 |
|
rs876657641
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
EDA gene mutations underlie non-syndromic oligodontia.
|
19278982 |
2009 |
|
rs876657641
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Oligodontia and curly hair occur with ectodysplasin-a mutations.
|
24487376 |
2014 |
|
rs917412
|
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Rare and Common Variants Conferring Risk of Tooth Agenesis.
|
29364747 |
2018 |
|
rs11001553
|
|
|
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 |
|
rs11001553
|
|
|
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 |
|
rs121908568
|
|
|
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 |
|
rs121908568
|
|
|
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 |
|
rs4904210
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings may imply that the PAX9 A240P</span> mutation is a risk factor for oligodontia in the Chinese population.
|
21530942 |
2011 |
|
rs4904210
|
|
|
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 |
|
rs730882193
|
|
|
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 |
|
rs730882193
|
|
|
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 |
|
rs1095
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, these meta-analysis results demonstrated that polymorphisms in the rs1095 region of the MSX1 gene may influence the transcriptional activity of this gene and are associated with hypodontia in humans.
|
25501212 |
2014 |
|
rs121908119
|
|
|
0.010 |
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 |
|
rs121909637
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A mutation of TP63 (c.1010G>T; R337L) leads to SHFM with hypodontia.
|
31420900 |
2019 |
|
rs1270965996
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family.
|
23227268 |
2012 |