rs73354570
|
SOX9;SOX9-AS1
|
Osteoporosis, Postmenopausal
|
|
0.010 |
GeneticVariation |
BEFREE |
SNP rs73354570 of SOX9 was significantly associated with PMOP in both discovery stages (OR 1.24 [1.10-1.39], P = 3.56 × 10<sup>-4</sup>, χ<sup>2</sup> = 12.75) and combined samples (OR 1.25 [1.15-1.37], P = 5.25 × 10<sup>-7</sup>, χ<sup>2</sup> = 25.17).
|
31732751 |
2020 |
rs1042667
|
SOX9;SOX9-AS1
|
Degenerative polyarthritis
|
|
0.010 |
GeneticVariation |
BEFREE |
The interaction between the polymorphisms rs1042667 and rs12601701 also contribute to OA risk.
|
30813126 |
2019 |
rs12601701
|
SOX9;SOX9-AS1;LOC107987249
|
Degenerative polyarthritis
|
|
0.010 |
GeneticVariation |
BEFREE |
The interaction between the polymorphisms rs1042667 and rs12601701 also contribute to OA risk.
|
30813126 |
2019 |
rs1357275943
|
SOX9;SOX9-AS1
|
Swyer Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
Results We have identified three different homozygous PPP2R3C variants, c.308T>C (p.L103P), c.578T>C (p.L193S) and c.1049T>C (p.F350S), in four girls with 46, XY complete gonadal dysgenesis.
|
30893644 |
2019 |
rs769269532
|
SOX9;SOX9-AS1
|
Congenital Abnormality
|
|
0.010 |
GeneticVariation |
BEFREE |
A recurrent rare heterozygous missense variant in SOX9 gene (NM_000346.3: c.1405A>G, p.M469V) which had not been reported previously was identified in three CVM patients who had the clinical findings of congenital scoliosis without deformities in other systems.
|
31549955 |
2019 |
rs769269532
|
SOX9;SOX9-AS1
|
Congenital scoliosis
|
|
0.010 |
GeneticVariation |
BEFREE |
A recurrent rare heterozygous missense variant in SOX9 gene (NM_000346.3: c.1405A>G, p.M469V) which had not been reported previously was identified in three CVM patients who had the clinical findings of congenital scoliosis without deformities in other systems.
|
31549955 |
2019 |
rs748989255
|
SOX9;SOX9-AS1
|
Multiple Synostoses Syndrome 3
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report that mice harboring the S99N mutation in Fgf9 develop the curly tail phenotype and partially or fully fused caudal vertebrae and limb joints, which mimic the major phenotypes of SYNS3 patients.
|
28169396 |
2017 |
rs1042667
|
SOX9;SOX9-AS1
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation |
BEFREE |
Results showed that SOX9 rs1042667 was significant associated with increased gliomas risk after adjusted by age, gender, family history of cancer, smoking status and alcohol status (Allele C vs A: OR=1.25; 95% CI=1.11-1.40; P=1.2×10-4).
|
27589569 |
2016 |
rs1042667
|
SOX9;SOX9-AS1
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
Results showed that SOX9 rs1042667 was significant associated with increased gliomas risk after adjusted by age, gender, family history of cancer, smoking status and alcohol status (Allele C vs A: OR=1.25; 95% CI=1.11-1.40; P=1.2×10-4).
|
27589569 |
2016 |
rs2229989
|
SOX9;SOX9-AS1
|
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
|
24038782 |
2013 |
rs2229989
|
SOX9;SOX9-AS1
|
SMALL PATELLA SYNDROME
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
|
24038782 |
2013 |
rs1425166755
|
SOX9;SOX9-AS1
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.
|
28965976 |
2018 |
rs1425166755
|
SOX9;SOX9-AS1
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.
|
25983619 |
2015 |
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
|
24038782 |
2013 |
rs137853130
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
|
24038782 |
2013 |
rs1407667250
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
|
24038782 |
2013 |
rs28940282
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
|
24038782 |
2013 |
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
|
20513132 |
2010 |
rs137853130
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
|
20513132 |
2010 |
rs1407667250
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
|
20513132 |
2010 |
rs28940282
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
|
20513132 |
2010 |
rs104894647
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.
|
19921652 |
2009 |
rs137853130
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.
|
19921652 |
2009 |
rs1407667250
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.
|
19921652 |
2009 |
rs1425166755
|
SOX9;SOX9-AS1
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.
|
19921652 |
2009 |