|
rs137853128
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
|
0.710 |
GeneticVariation |
BEFREE |
A long-term survivor with the acampomelic form of CD has an A76E amino acid substitution, while a severely affected CD patient had an in-frame deletion of amino acid residues 66-75.
|
12783851 |
2003 |
|
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
|
Degenerative polyarthritis
|
|
0.010 |
GeneticVariation |
BEFREE |
The interaction between the polymorphisms rs1042667 and rs12601701 also contribute to OA risk.
|
30813126 |
2019 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs137853129
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104894647
|
SOX9;SOX9-AS1
|
Acampomelic Campomelic Dysplasia
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057518216
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057518669
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs137853128
|
SOX9;SOX9-AS1
|
Acampomelic Campomelic Dysplasia
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs137853130
|
SOX9;SOX9-AS1
|
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1425166755
|
SOX9;SOX9-AS1
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.
|
9452059 |
1998 |
|
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 |
A clinical and genetic study of campomelic dysplasia.
|
7666392 |
1995 |
|
rs1425166755
|
SOX9;SOX9-AS1
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The phenotype of survivors of campomelic dysplasia.
|
12161603 |
2002 |
|
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 |
|
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 |
|
rs1425166755
|
SOX9;SOX9-AS1
|
Dysmorphic features
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Differentiating campomelic dysplasia from Cumming syndrome.
|
15754354 |
2005 |