|
rs137853299
|
TIMP3;SYN3
|
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.
|
7894485 |
1994 |
|
rs137853300
|
TIMP3;SYN3
|
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.
|
7894485 |
1994 |
|
rs137853301
|
TIMP3;SYN3
|
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.
|
7894485 |
1994 |
|
rs137853299
|
TIMP3;SYN3
|
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
G |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs137853300
|
TIMP3;SYN3
|
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
G |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs137853301
|
TIMP3;SYN3
|
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1065314
|
TIMP3;SYN3
|
Triglycerides measurement
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Identification of female-specific genetic variants for metabolic syndrome and its component traits to improve the prediction of metabolic syndrome in females.
|
31170924 |
2019 |
|
rs12165603
|
TIMP3;SYN3
|
Serum HDL cholesterol measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
rs12165603
|
TIMP3;SYN3
|
High density lipoprotein measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
rs16991252
|
TIMP3;SYN3
|
High density lipoprotein measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
rs16991252
|
TIMP3;SYN3
|
Serum HDL cholesterol measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
|
rs137853302
|
TIMP3;SYN3
|
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1270675463
|
TIMP3;SYN3
|
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
|
0.020 |
GeneticVariation |
BEFREE |
Haplotype reconstruction in three SFD families revealed that the identified c.113C>G, p.(Ser38Cys) mutation is a founder in Belgian and northern French families with a late-onset SFD phenotype.
|
30668888 |
2019 |
|
rs715572
|
TIMP3;SYN3
|
Degenerative polyarthritis
|
|
0.020 |
GeneticVariation |
BEFREE |
The minor G allele of rs650108 was associated with OA risk in a recessive model (<i>p</i> = 0.034, OR = 1.82, 95%CI = 1.04-3.18), while the minor A allele of rs715572 was associated with OA risk in a recessive model (<i>p =</i> 0.030, OR = 1.88, 95%CI = 1.05-3.34).
|
29137364 |
2017 |
|
rs1270675463
|
TIMP3;SYN3
|
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
|
|
0.020 |
GeneticVariation |
BEFREE |
This case series suggests the C113G TIMP3 variant may represent a novel highly penetrant mutation causing choroidal neovascularisation of relatively late onset for Sorsby's fundus dystrophy, mimicking early onset AMD.
|
26493035 |
2016 |
|
rs715572
|
TIMP3;SYN3
|
Degenerative polyarthritis
|
|
0.020 |
GeneticVariation |
BEFREE |
TIMP3 rs715572G/A is a candidate protective gene for severe knee OA.</span>
|
26068512 |
2015 |
|
rs11547635
|
TIMP3;SYN3
|
Ankylosing spondylitis
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified that rs11547635 in the TIMP3 gene (odds ratio[OR] = 0.79, 95% confidence intervals [CI]: 0.63-0.98, p = .029) was significantly associated with a decreased risk of AS in the alleles model.
|
31397536 |
2019 |
|
rs135029
|
TIMP3;SYN3
|
Ovarian Failure, Premature
|
|
0.010 |
GeneticVariation |
BEFREE |
Among the four TIMP loci, the TIMP1T > C (rs4898), TIMP1G > A (rs6609533), TIMP2G > C (rs8179090), TIMP2G > A (rs2277698), TIMP3G > A (rs135029), and TIMP4T > C (rs3755724) haplotypes were identified more frequently in POI patients than in control subjects and conferred susceptibility to POI (P <0.0001).
|
30583769 |
2019 |
|
rs135029
|
TIMP3;SYN3
|
Premature Menopause
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of our study was to investigate whether the TIMP polymorphisms TIMP1T > C (rs4898), TIMP1G > A (rs6609533), TIMP2G > C (rs8179090), TIMP2G > A (rs2277698), TIMP3G > A (rs135029), and TIMP4T > C (rs3755724), which regulate matrix metalloproteinases (MMPs), confer a risk for primary ovarian insufficiency (POI) in Korean women (further studies would be required to evaluate the associations between TIMP polymorphisms and POI in other populations).
|
30583769 |
2019 |
|
rs5754312
|
TIMP3;SYN3
|
Shoulder Pain
|
|
0.010 |
GeneticVariation |
BEFREE |
The study aimed to evaluate associations between shoulder pain/disability and seven single nucleotide polymorphisms (SNPs) within five angiogenesis-associated genes: <i>KDR</i> (rs2305948 C>T; rs7667298 C>T), <i>NOS3</i> (rs1549758 C>T), <i>MMP2</i> (rs708269 A>T), <i>THBS2</i> (rs9766678 A>G) and <i>TIMP3</i> (rs5754312 T>A; rs715572 G>A).
|
31118800 |
2019 |
|
rs715572
|
TIMP3;SYN3
|
Ankylosing spondylitis
|
|
0.010 |
GeneticVariation |
BEFREE |
Rs715572 AG genotype (OR = 1.57, 95% CI: 1.05-2.34, p = .041) was potentially associated with an increased risk of AS, and also rs715572 in the dominant model (OR = 1.61, 95% CI: 1.10-2.36, p = .013) and log-additive model (OR = 1.41, 95% CI: 1.07-1.86, p = .016) adjusted by age and gender were significantly correlated with an increased AS risk.
|
31397536 |
2019 |
|
rs715572
|
TIMP3;SYN3
|
Shoulder Pain
|
|
0.010 |
GeneticVariation |
BEFREE |
The study aimed to evaluate associations between shoulder pain/disability and seven single nucleotide polymorphisms (SNPs) within five angiogenesis-associated genes: <i>KDR</i> (rs2305948 C>T; rs7667298 C>T), <i>NOS3</i> (rs1549758 C>T), <i>MMP2</i> (rs708269 A>T), <i>THBS2</i> (rs9766678 A>G) and <i>TIMP3</i> (rs5754312 T>A; rs715572 G>A).
|
31118800 |
2019 |
|
rs9862
|
TIMP3;SYN3
|
Malignant neoplasm of mouth
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, these results suggest that gene-environment interactions between the TIMP3 rs9862 polymorphisms and betel quid may alter oral cancer susceptibility and tumor growth in Taiwanese men.
|
26579821 |
2015 |
|
rs9862
|
TIMP3;SYN3
|
Lip and Oral Cavity Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, these results suggest that gene-environment interactions between the TIMP3 rs9862 polymorphisms and betel quid may alter oral cancer susceptibility and tumor growth in Taiwanese men.
|
26579821 |
2015 |
|
rs9862
|
TIMP3;SYN3
|
Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, these results suggest that gene-environment interactions between the TIMP3 rs9862</span> p</span>olymorphisms and betel quid may alter oral cancer susceptibility and tumor growth in Taiwanese men.
|
26579821 |
2015 |