rs756718693
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, our paper provides the primary data of the application of t-NGS in MO molecular diagnosis, including six newly identified mutations (EXT1: c.1843_1846dup, c.1088G>A, c.351C>G, and c.2120C>T and EXT2: c.744-1G>T and c.575T>A), which further enrich the mutation database of MO from the Chinese population.
|
28690282 |
2017 |
rs7903146
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus we investigated if the key T allele of single nucleotide polymorphism (SNP) rs7903146 within the TCF7L2 locus, which is strongly over-represented among T2D cases, was also associated with HME.
|
25498973 |
2015 |
rs1554601483
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
|
9463333 |
1998 |
rs1554601483
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
|
9521425 |
1998 |
rs1554601483
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
|
11391482 |
2001 |
rs1057520608
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131691623
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
|
11391482 |
2001 |
rs1131691623
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
|
10679937 |
2000 |
rs1131691623
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
|
19810120 |
2009 |
rs11546829
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs119103287
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.
|
18330718 |
2009 |
rs119103287
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas.
|
18165274 |
2008 |
rs119103287
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.
|
10713884 |
2000 |
rs119103287
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.
|
24532482 |
2014 |
rs119103287
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.
|
25468659 |
2014 |
rs119103287
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
|
26961984 |
2016 |
rs119103287
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.
|
8981950 |
1997 |
rs119103287
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
|
11391482 |
2001 |
rs119103287
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
|
19810120 |
2009 |
rs119103287
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
|
9521425 |
1998 |
rs119103287
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.
|
23439489 |
2013 |
rs119103287
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?
|
26239617 |
2015 |
rs119103287
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.
|
11391482 |
2001 |
rs119103287
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
|
19810120 |
2009 |
rs119103287
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas.
|
26961984 |
2016 |