Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1022088103
rs1022088103
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 GeneticVariation BEFREE Mutational analysis of Nm23-H1 revealed that substitution mutants P96S and S120G did not inhibit motility and invasion. 17671192

2007

dbSNP: rs1132896
rs1132896
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 GeneticVariation BEFREE SNPStats, Haploview was used to analyze genetic data.Two SNPs in the MMP-2 gene were significantly associated with stroke risk.For rs1132896 (C versus G allele), the C allele was significantly reduced stroke risk (OR = 0.56, 95% confidence intervals [95% CI] = 0.39-0.81, P = .002). 30278505

2018

dbSNP: rs11639960
rs11639960
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE However, two of these SNPs (rs17301608 and rs11639960) were examined and were not associated with prostate cancer</span> in a recent genome-wide association study using prostate cancer cases and controls from the Prostate, Lung, Colorectal, and Ovary study cohort. 18398039

2008

dbSNP: rs11639960
rs11639960
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 GeneticVariation BEFREE However, two of these SNPs (rs17301608 and rs11639960) were examined and were not associated with prostate cancer</span> in a recent genome-wide association study using prostate cancer cases and controls from the Prostate, Lung, Colorectal, and Ovary study cohort. 18398039

2008

dbSNP: rs11643630
rs11643630
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE Minor allele homozygotes for rs11644561 (G/A) were found to have a decreased risk of breast cancer [odds ratio (OR), 0.6; 95% confidence interval (CI), 0.3-1.0] compared with major allele homozygotes, as were minor allele homozygotes for rs11643630 (T/G) compared with major allele homozygotes (OR, 0.8; 95% CI, 0.7-1.0). 19454611

2009

dbSNP: rs11643630
rs11643630
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Minor allele homozygotes for rs11644561 (G/A) were found to have a decreased risk of breast cancer [odds ratio (OR), 0.6; 95% confidence interval (CI), 0.3-1.0] compared with major allele homozygotes, as were minor allele homozygotes for rs11643630 (T/G) compared with major allele homozygotes (OR, 0.8; 95% CI, 0.7-1.0). 19454611

2009

dbSNP: rs11644561
rs11644561
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE Minor allele homozygotes for rs11644561 (G/A) were found to have a decreased risk of breast cancer [odds ratio (OR), 0.6; 95% confidence interval (CI), 0.3-1.0] compared with major allele homozygotes, as were minor allele homozygotes for rs11643630 (T/G) compared with major allele homozygotes (OR, 0.8; 95% CI, 0.7-1.0). 19454611

2009

dbSNP: rs11644561
rs11644561
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Minor allele homozygotes for rs11644561 (G/A) were found to have a decreased risk of breast cancer [odds ratio (OR), 0.6; 95% confidence interval (CI), 0.3-1.0] compared with major allele homozygotes, as were minor allele homozygotes for rs11643630 (T/G) compared with major allele homozygotes (OR, 0.8; 95% CI, 0.7-1.0). 19454611

2009

dbSNP: rs11646643
rs11646643
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE rs243864 (OR: 7.44; 95% CI: 3.62-15.26) and rs11646643 (OR: 1.58; 95% CI: 1.07-2.34) of the MMP-2 gene and rs3918253 (OR: 1.72; 95% CI: 1.08-2.71) of the MMP-9 gene, were associated with the risk of COPD. 26439471

2015

dbSNP: rs121912955
rs121912955
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder)
0.010 GeneticVariation BEFREE We report a homozygous missense mutation (E404K) in the active site of MMP2 in a 21-year-old woman with a severe form of osteolysis best compatible with a diagnosis of Winchester syndrome. 15691365

2005

dbSNP: rs1231584616
rs1231584616
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 GeneticVariation BEFREE Mutational analysis of Nm23-H1 revealed that substitution mutants P96S and S120G did not inhibit motility and invasion. 17671192

2007

dbSNP: rs1238968510
rs1238968510
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Decreases in the MMP-2 (-735) polymorphism GG genotype and increases in the MMP-13 (A77G) polymorphism AG and GG genotypes increase the risk for lung cancer. 23465389

2013

dbSNP: rs1238968510
rs1238968510
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.010 GeneticVariation BEFREE When we compared polymorphisms pertaining to MMP genes in healthy controls and lung tumor DNA, we observed a decrease in the MMP-2 (-735) polymorphism GG genotype and increases in the MMP-13 (A77G) polymorphism AG and GG genotypes (P = 0.008, P = 0.047, and P = 0.047, respectively). 23465389

2013

dbSNP: rs1238968510
rs1238968510
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 GeneticVariation BEFREE Decreases in the MMP-2 (-735) polymorphism GG genotype and increases in the MMP-13 (A77G) polymorphism AG and GG genotypes increase the risk for lung cancer. 23465389

2013

dbSNP: rs1238968510
rs1238968510
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Decreases in the MMP-2 (-735) polymorphism GG genotype and increases in the MMP-13 (A77G) polymorphism AG and GG genotypes increase the risk for lung cancer. 23465389

2013

dbSNP: rs12934241
rs12934241
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 GeneticVariation BEFREE The variant homozygotes of reference SNP rs12934241 exhibited the most significant effect on the risk of neutropenia, leading to an incidence rate that increased from 12.3% (for the C/C genotype) to 50% (for the T/T genotype; odds ratio, 8.33; P = 8.8 × 10(-5)). 22072145

2012

dbSNP: rs12934241
rs12934241
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.010 GeneticVariation BEFREE The variant homozygotes of reference SNP rs12934241 exhibited the most significant effect on the risk of neutropenia, leading to an incidence rate that increased from 12.3% (for the C/C genotype) to 50% (for the T/T genotype; odds ratio, 8.33; P = 8.8 × 10(-5)). 22072145

2012

dbSNP: rs14070
rs14070
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation BEFREE Increasing urinary cadmium concentrations were positively associated with hypertension risk in a Chinese population, and the associations were modified by polymorphism of rs14070 and rs7201 in gene MMP-2. 30684802

2019

dbSNP: rs142319636
rs142319636
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.710 GeneticVariation BEFREE We discovered 17 variants across 4 independent regions that merit further investigation due to suggestive CRC associations (P < 1×10(-6)) at 1p34.3 (rs7528276; Odds Ratio (OR) = 1.86 [95% confidence interval (CI): 1.47-2.36); P = 2.5×10(-7)], 2q23.3 (rs1367374; OR = 1.37 (95% CI: 1.21-1.55); P = 4.0×10(-7)), 14q24.2 (rs143046984; OR = 1.65 (95% CI: 1.36-2.01); P = 4.1×10(-7)) and 16q12.2 [rs142319636; OR = 1.69 (95% CI: 1.37-2.08); P=7.8×10(-7)]. 27207650

2016

dbSNP: rs1477017
rs1477017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE In the MMP2 gene, three intronic SNPs, all in linkage disequilibrium, were associated with overall and advanced prostate cancer (for overall prostate cancer, P(trend) = 0.01 for rs1477017, P(trend) = 0.01 for rs17301608, P(trend) = 0.02 for rs11639960). 18398039

2008

dbSNP: rs1477017
rs1477017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 GeneticVariation BEFREE In the MMP2 gene, three intronic SNPs, all in linkage disequilibrium, were associated with overall and advanced prostate cancer (for overall prostate cancer, P(trend) = 0.01 for rs1477017, P(trend) = 0.01 for rs17301608, P(trend) = 0.02 for rs11639960). 18398039

2008

dbSNP: rs17301608
rs17301608
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE However, two of these SNPs (rs17301608 and rs11639960) were examined and were not associated with prostate cancer</span> in a recent genome-wide association study using prostate cancer cases and controls from the Prostate, Lung, Colorectal, and Ovary study cohort. 18398039

2008

dbSNP: rs17301608
rs17301608
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.010 GeneticVariation BEFREE However, two of these SNPs (rs17301608 and rs11639960) were examined and were not associated with prostate cancer</span> in a recent genome-wide association study using prostate cancer cases and controls from the Prostate, Lung, Colorectal, and Ovary study cohort. 18398039

2008

dbSNP: rs17859821
rs17859821
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.020 GeneticVariation BEFREE Haplotype analysis indicated the haplotype GGG (rs243864-rs17859821-rs243866) was associated with higher risk of systolic HF (adjusted OR 2.05, 95% CI 1.08-3.89; P = 0.028). 19295411

2009

dbSNP: rs17859821
rs17859821
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.020 GeneticVariation BEFREE The findings of the present study suggest that MMP-2 rs17859821 A allele was associated with better prognosis of systolic HF in the northern Han Chinese population. 19332048

2009