Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2252070
rs2252070
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
0.020 GeneticVariation BEFREE We also assessed the potential association between 2 functional single nucleotide polymorphisms in the genes MMP9 (-1561C/T; rs3918242) and MMP13 (-77A/G; rs2252070), and the presence of large AAAs. 29739236

2019

dbSNP: rs2252070
rs2252070
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
0.020 GeneticVariation BEFREE No associations with AAA were identified for other SNPs assessed in this study including rs1799750 (MMP1), rs3918242 (MMP9), rs486055 (MMP10), rs2276109 (MMP12), rs2252070 (MMP13), rs4898 (TIMP1) or rs9619311 (TIMP3). 23813847

2014

dbSNP: rs2252070
rs2252070
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 GeneticVariation BEFREE In addition, the combined effects of IL-8 (rs4073), MMP-1 (rs2071230 and rs470558) and MMP-13 (rs2252070</span>) with environmental carcinogens, such as tobacco and alcohol, are related to increased risk for oral and oropharyngeal SCC development. 31525531

2019

dbSNP: rs2252070
rs2252070
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
0.010 GeneticVariation BEFREE The <i>IL-6</i> rs1800795 (-174 G>C) and <i>MMP-13</i> rs2252070 (-77G>A) mutations were associated with KOA susceptibility, increased disease severity, and up-regulation of IL-6 and MMP-13 expression levels. 30635366

2019

dbSNP: rs2252070
rs2252070
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE After analyzing 1588 ESCC patients and frequency-matched 1600 unaffected controls, we found that MMP13 rs2252070 G > A genetic polymorphism is significantly associated with ESCC risk in Chinese Han populations (GA: OR = 0.63, 95% CI = 0.54-0.74, P = 1.7 × 10(-6), AA: OR = 0.73, 95% CI = 0.66-0.81, P = 1.8 × 10(-6)). 27245877

2016

dbSNP: rs2252070
rs2252070
CUI: C1568272
Disease: Tendinopathy
Tendinopathy
0.010 GeneticVariation BEFREE One hundred women who presented PTT dysfunction, with histopathological examination of the tendon and magnetic resonance imaging (MRI) confirming tendinopathy, as well as 100 asymptomatic women who presented intact PPT as assessed by MRI and constituting the control group, were evaluated for MMP-13 g.-77 A > G (rs2252070) polymorphism, individually and in haplotypes, as well as in combination with MMP-1 g.-519 A > G (rs1144393), MMP-1 g.-1607 G > GG (rs1799750) and MMP-8 g.-799 C > T (rs11225395) polymorphisms with PTT dysfunction. 27886420

2016

dbSNP: rs2252070
rs2252070
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon
0.010 GeneticVariation BEFREE One hundred women who presented PTT dysfunction, with histopathological examination of the tendon and magnetic resonance imaging (MRI) confirming tendinopathy, as well as 100 asymptomatic women who presented intact PPT as assessed by MRI and constituting the control group, were evaluated for MMP-13 g.-77 A > G (rs2252070) polymorphism, individually and in haplotypes, as well as in combination with MMP-1 g.-519 A > G (rs1144393), MMP-1 g.-1607 G > GG (rs1799750) and MMP-8 g.-799 C > T (rs11225395) polymorphisms with PTT dysfunction. 27886420

2016

dbSNP: rs2252070
rs2252070
CUI: C4722419
Disease: Extrapulmonary Small Cell Carcinoma
Extrapulmonary Small Cell Carcinoma
0.010 GeneticVariation BEFREE The Sp1-mediaded allelic regulation of MMP13 expression by an ESCC susceptibility SNP rs2252070. 27245877

2016

dbSNP: rs2252070
rs2252070
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The results identified a positive association between rs2252070 A>G polymorphism and susceptibility to cancer</span> under five genetic models (all P < 0.05). 25023404

2014

dbSNP: rs2252070
rs2252070
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 GeneticVariation BEFREE Our findings suggest significant association for MMP-13 rs2252070 A>G to increased susceptibility to human cancer, especially in the progression of lung carcinoma. 25023404

2014

dbSNP: rs2252070
rs2252070
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE The results identified a positive association between rs2252070 A>G polymorphism and susceptibility to cancer</span> under five genetic models (all P < 0.05). 25023404

2014

dbSNP: rs2252070
rs2252070
CUI: C0000846
Disease: Agenesis
Agenesis
0.010 GeneticVariation BEFREE We investigated the association between polymorphisms in the MMP2 (rs243865), MMP9 (rs17576), and MMP13 (rs2252070) genes with tooth agenesis in humans. 24351915

2013

dbSNP: rs2252070
rs2252070
CUI: C0011334
Disease: Dental caries
Dental caries
0.010 GeneticVariation BEFREE The purpose of this study was to determine if polymorphisms in MMP2 (rs243865), MMP9 (rs17576), MMP13 (rs2252070), and TIMP2 (rs7501477) were associated with caries. 22710194

2012

dbSNP: rs2252070
rs2252070
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality)
0.010 GeneticVariation BEFREE The purpose of this study was to determine if polymorphisms in MMP2 (rs243865), MMP9 (rs17576), MMP13 (rs2252070), and TIMP2 (rs7501477) were associated with caries. 22710194

2012