|
rs121908120
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057519389
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1131692034
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
rs515726227
|
|
CAT |
0.710 |
CausalMutation |
CLINVAR |
A human MSX1 homeodomain missense mutation causes selective tooth agenesis.
|
8696335 |
1996 |
|
rs121909637
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A mutation of TP63 (c.1010G>T; R337L) leads to SHFM with hypodontia.
|
31420900 |
2019 |
|
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 |
|
rs67707918
|
|
|
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 |
|
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 |
|
rs139871607
|
|
|
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 |
|
rs67682641
|
|
|
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 |
|
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 |
|
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 |
|
rs876657641
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
EDA gene mutations underlie non-syndromic oligodontia.
|
19278982 |
2009 |
|
rs397516654
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.
|
19623212 |
2010 |
|
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 |
|
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 |
|
rs929387
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a previous study, we observed that polymorphism in rs929387 of GLI3 might be associated with hypodontia in the Chinese Han population based on a limited population.
|
24278334 |
2013 |
|
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 |
|
rs7143727
|
|
|
0.010 |
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 |
|
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 |
|
rs752881223
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we identified a de novo AXIN2 missense mutation (c.314T>G) in a Chinese individual with non-syndromic oligodontia.
|
26406231 |
2015 |
|
rs132630321
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified.
|
18657636 |
2009 |
|
rs1418913084
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified.
|
18657636 |
2009 |
|
rs776377834
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, a novel EDA mutation (Thr338Met) that results in X-linked non-syndromic hypodontia in a Chinese family was identified.
|
18657636 |
2009 |