Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9509
rs9509
Congenital arteriovenous malformation
0.010 GeneticVariation BEFREE The rs9509 polymorphism of MMP-9 is associated with risk of hemorrhage in brain arteriovenous malformations. 22796276

2012

dbSNP: rs9509
rs9509
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma
0.010 GeneticVariation BEFREE The rs9509 polymorphism of MMP-9 is associated with risk of hemorrhage in brain arteriovenous malformations. 22796276

2012

dbSNP: rs8125581
rs8125581
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
0.010 GeneticVariation BEFREE Analyses identified MMP-9 p-2502 single nucleotide polymorphism (odds ratio [OR], 0.54; 95% confidence interval [CI], 0.31-0.94; P = .029) as a significant confound discriminating between control vs slow-growth AAA, MMP-9 D165N (OR, 0.49; 95% CI, 0.26-0.95; P = .035) and LRP1 (OR, 4.99; 95% CI, 1.13-22.1; P = .034) between control vs aggressive-growth AAAs, and methyltetrahydrofolate reductase (OR, 2.99; 95% CI, 1.01-8.86; P = .048), MMP-9 p-2502 (OR, 2.19; 95% CI, 1.05-4.58; P = .037), and LRP1 (OR, 4.96; 95% CI, 1.03-23.9; P = .046) as the statistically significant confounds distinguishing slow-growth AAAs vs aggressive-growth AAAs. 24801553

2014

dbSNP: rs80077409
rs80077409
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE This study for the first time not only suggests that MMP-9 -C1562 T and MMP-2 -G1575A alleles synergistically increase the risk of SLE but also high serum levels of MDA, neopterin, and circulatory levels of MMP-2 and lower MMP-9 in SLE patients. 25416694

2015

dbSNP: rs79845319
rs79845319
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc
0.010 GeneticVariation BEFREE The SNP rs17576 was found to be significantly associated with susceptibility to LDH (OR = 0.77, p = 0.0002), which was also confirmed by haplotype-based analyses (rs79845319-rs17576-rs45437897, global p < 0.001). 30289281

2018

dbSNP: rs45437897
rs45437897
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc
0.010 GeneticVariation BEFREE The SNP rs17576 was found to be significantly associated with susceptibility to LDH (OR = 0.77, p = 0.0002), which was also confirmed by haplotype-based analyses (rs79845319-rs17576-rs45437897, global p < 0.001). 30289281

2018

dbSNP: rs41529445
rs41529445
Influenza due to Influenza A virus subtype H1N1
0.700 GeneticVariation GWASCAT No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity. 26379185

2015

dbSNP: rs3918270
rs3918270
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219

2012

dbSNP: rs3918261
rs3918261
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219

2012

dbSNP: rs3918256
rs3918256
CUI: C0033377
Disease: Ptosis
Ptosis
0.010 GeneticVariation BEFREE Of these, two were associated with advanced prolapse: 1) rs3918253 (adjusted odds ratio [OR] 0.64, 95% confidence interval [CI] 0.41-1.0, P=.05); and 2) rs3918256 (adjusted OR 0.64, 95% CI 0.41-1.01, P=.05). 22914468

2012

dbSNP: rs3918254
rs3918254
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Additionally, the haplotype "AGTCA" constructed by rs3740938, rs2012390, rs1940475, rs11225394, and rs11225395 and the haplotype "CCG" constructed by rs3918249, rs3918254 and rs3787268 were associated with increased risk of BC (P < 0.05). 30194384

2018

dbSNP: rs3918254
rs3918254
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris
0.010 GeneticVariation BEFREE Similar results were found in further subgroup analysis based on gender, age of onset, family history, and serum MMP-9 levels, except that a protective effect of psoriasis vulgaris was detected among female subjects with the CT genotype of rs3918254 (OR=0.47, 95% CI=0.23-0.96, P=0.038), but this association did not survive after Bonferroni correction (P(adj)=0.076). 26554609

2015

dbSNP: rs3918254
rs3918254
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE Additionally, the haplotype "AGTCA" constructed by rs3740938, rs2012390, rs1940475, rs11225394, and rs11225395 and the haplotype "CCG" constructed by rs3918249, rs3918254 and rs3787268 were associated with increased risk of BC (P < 0.05). 30194384

2018

dbSNP: rs3918254
rs3918254
CUI: C2721603
Disease: Henoch-Schonlein purpura nephritis
Henoch-Schonlein purpura nephritis
0.010 GeneticVariation BEFREE These observations suggest that the rs17576 and rs3918254 polymorphisms of MMP9 are associated with HSPN. 27323137

2016

dbSNP: rs3918253
rs3918253
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: rs3918253
rs3918253
CUI: C0033377
Disease: Ptosis
Ptosis
0.010 GeneticVariation BEFREE Of these, two were associated with advanced prolapse: 1) rs3918253 (adjusted odds ratio [OR] 0.64, 95% confidence interval [CI] 0.41-1.0, P=.05); and 2) rs3918256 (adjusted OR 0.64, 95% CI 0.41-1.01, P=.05). 22914468

2012

dbSNP: rs3918252
rs3918252
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 GeneticVariation BEFREE Zymographic MMP-2 and MMP-9 production, MMP-9 activity and invasion through matrigel in vitro were significantly less in sgk1(-/-) than in sgk1(+/+)macrophages and in control plasmid-transfected or inactive (K127N)SGK1-transfected than in constitutively active (S422D)SGK1-transfected THP-1 cells. 25614279

2015

dbSNP: rs3918249
rs3918249
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.020 GeneticVariation BEFREE Significant associations were only found between MMP-9 rs17576 G > A polymorphism (GA vs. GG: OR = 0.80, 95%CI = 0.67-0.97, P = 0.02, I<sup>2</sup> = 0%), MMP-9 rs3918249 C > T polymorphism (TT vs. CC + CT: OR = 0.71, 95%CI = 0.51-0.98, P = 0.04, I<sup>2</sup> = 0%) and glaucoma risk in the general population. 28431514

2017

dbSNP: rs3918249
rs3918249
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.020 GeneticVariation BEFREE This study demonstrates an association between MMP9 SNPs rs3918249 and rs17576 and PACG in the Australian population, suggesting MMP9 may be involved in the pathogenesis of this blinding disease. 21655354

2011

dbSNP: rs3918249
rs3918249
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
0.020 GeneticVariation BEFREE This study demonstrates an association between MMP9 SNPs rs3918249 and rs17576 and PACG in the Australian population, suggesting MMP9 may be involved in the pathogenesis of this blinding disease. 21655354

2011

dbSNP: rs3918249
rs3918249
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.020 GeneticVariation BEFREE Significant heterogeneity between non-Chinese and Chinese datasets precluded overall meta-analysis for rs17576 and rs3918249 (Q = 0.001 and 0.04 respectively). rs17577 was nominally associated with PACG in one Caucasian study (OR = 1.71, P = 0.02), but not in 3 Chinese studies including our study (ORs = 1.20, P = 0.07). 27272641

2016

dbSNP: rs3918249
rs3918249
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
0.020 GeneticVariation BEFREE Significant heterogeneity between non-Chinese and Chinese datasets precluded overall meta-analysis for rs17576 and rs3918249 (Q = 0.001 and 0.04 respectively). rs17577 was nominally associated with PACG in one Caucasian study (OR = 1.71, P = 0.02), but not in 3 Chinese studies including our study (ORs = 1.20, P = 0.07). 27272641

2016

dbSNP: rs3918249
rs3918249
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.020 GeneticVariation BEFREE The rs3918249 polymorphism was also associated with a decreased risk of glaucoma, especially for Caucasian patients. 26872021

2016

dbSNP: rs3918249
rs3918249
CUI: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation BEFREE The SNP rs3918249 exhibited a female gender-dependent association with asthma (OR=1.66, 95% CI 1.14-2.43, P=0.007). 23639553

2013

dbSNP: rs3918249
rs3918249
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE Additionally, the haplotype "AGTCA" constructed by rs3740938, rs2012390, rs1940475, rs11225394, and rs11225395 and the haplotype "CCG" constructed by rs3918249, rs3918254 and rs3787268 were associated with increased risk of BC (P < 0.05). 30194384

2018