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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs3918242

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr20:46007337 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.128403 (33987/264690, TOPMED)
T=0.134185 (18780/139956, GnomAD)
T=0.17402 (3402/19550, ALFA) (+ 13 more)
T=0.16563 (2776/16760, 8.3KJPN)
T=0.1552 (777/5008, 1000G)
T=0.1873 (839/4480, Estonian)
T=0.1453 (560/3854, ALSPAC)
T=0.1370 (508/3708, TWINSUK)
T=0.1294 (379/2930, KOREAN)
T=0.1321 (242/1832, Korea1K)
T=0.146 (146/998, GoNL)
T=0.182 (109/600, NorthernSweden)
T=0.167 (36/216, Qatari)
T=0.125 (27/216, Vietnamese)
C=0.477 (62/130, SGDP_PRJ)
C=0.44 (8/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MMP9 : 2KB Upstream Variant
Publications
117 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 20 NC_000020.11:g.46007337C>T
GRCh37.p13 chr 20 NC_000020.10:g.44635976C>T
MMP9 RefSeqGene NG_011468.1:g.3430C>T
Gene: MMP9, matrix metallopeptidase 9 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MMP9 transcript NM_004994.3:c. N/A Upstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 19550 C=0.82598 T=0.17402
European Sub 14364 C=0.83842 T=0.16158
African Sub 3380 C=0.7725 T=0.2275
African Others Sub 114 C=0.930 T=0.070
African American Sub 3266 C=0.7670 T=0.2330
Asian Sub 146 C=0.774 T=0.226
East Asian Sub 120 C=0.733 T=0.267
Other Asian Sub 26 C=0.96 T=0.04
Latin American 1 Sub 146 C=0.890 T=0.110
Latin American 2 Sub 610 C=0.916 T=0.084
South Asian Sub 104 C=0.673 T=0.327
Other Sub 800 C=0.777 T=0.223


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.871597 T=0.128403
gnomAD - Genomes Global Study-wide 139956 C=0.865815 T=0.134185
gnomAD - Genomes European Sub 75814 C=0.85119 T=0.14881
gnomAD - Genomes African Sub 41926 C=0.87860 T=0.12140
gnomAD - Genomes American Sub 13626 C=0.91171 T=0.08829
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.8447 T=0.1553
gnomAD - Genomes East Asian Sub 3120 C=0.8657 T=0.1343
gnomAD - Genomes Other Sub 2148 C=0.8743 T=0.1257
8.3KJPN JAPANESE Study-wide 16760 C=0.83437 T=0.16563
1000Genomes Global Study-wide 5008 C=0.8448 T=0.1552
1000Genomes African Sub 1322 C=0.8828 T=0.1172
1000Genomes East Asian Sub 1008 C=0.8433 T=0.1567
1000Genomes Europe Sub 1006 C=0.8270 T=0.1730
1000Genomes South Asian Sub 978 C=0.757 T=0.243
1000Genomes American Sub 694 C=0.925 T=0.075
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8127 T=0.1873
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8547 T=0.1453
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8630 T=0.1370
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.8706 T=0.1294
Korean Genome Project KOREAN Study-wide 1832 C=0.8679 T=0.1321
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.854 T=0.146
Northern Sweden ACPOP Study-wide 600 C=0.818 T=0.182
Qatari Global Study-wide 216 C=0.833 T=0.167
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.875 T=0.125
SGDP_PRJ Global Study-wide 130 C=0.477 T=0.523
Siberian Global Study-wide 18 C=0.44 T=0.56
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= T
GRCh38.p13 chr 20 NC_000020.11:g.46007337= NC_000020.11:g.46007337C>T
GRCh37.p13 chr 20 NC_000020.10:g.44635976= NC_000020.10:g.44635976C>T
MMP9 RefSeqGene NG_011468.1:g.3430= NG_011468.1:g.3430C>T
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

49 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 PGA-UW-FHCRC ss5112457 Oct 10, 2002 (108)
2 SC_SNP ss8318977 Apr 21, 2003 (114)
3 SNP500CANCER ss48295694 Mar 14, 2006 (126)
4 EGP_SNPS ss70380766 May 18, 2007 (127)
5 ILLUMINA ss160655042 Dec 01, 2009 (131)
6 COMPLETE_GENOMICS ss168197069 Jul 04, 2010 (132)
7 COMPLETE_GENOMICS ss172116619 Jul 04, 2010 (132)
8 1000GENOMES ss237846237 Jul 15, 2010 (132)
9 GMI ss283394828 May 04, 2012 (137)
10 GMI ss287463395 Apr 25, 2013 (138)
11 PJP ss292660157 May 09, 2011 (134)
12 ILLUMINA ss481834821 Sep 08, 2015 (146)
13 TISHKOFF ss566275036 Apr 25, 2013 (138)
14 SSMP ss662156822 Apr 25, 2013 (138)
15 EVA-GONL ss994765403 Aug 21, 2014 (142)
16 JMKIDD_LAB ss1082236023 Aug 21, 2014 (142)
17 1000GENOMES ss1364949391 Aug 21, 2014 (142)
18 DDI ss1429066195 Apr 01, 2015 (144)
19 EVA_UK10K_ALSPAC ss1638875357 Apr 01, 2015 (144)
20 EVA_UK10K_TWINSUK ss1681869390 Apr 01, 2015 (144)
21 EVA_DECODE ss1698826081 Apr 01, 2015 (144)
22 HAMMER_LAB ss1809520463 Sep 08, 2015 (146)
23 WEILL_CORNELL_DGM ss1938279460 Feb 12, 2016 (147)
24 ILLUMINA ss1959919357 Feb 12, 2016 (147)
25 JJLAB ss2029919815 Sep 14, 2016 (149)
26 USC_VALOUEV ss2158487722 Dec 20, 2016 (150)
27 HUMAN_LONGEVITY ss2243128645 Dec 20, 2016 (150)
28 TOPMED ss2409660360 Dec 20, 2016 (150)
29 GRF ss2704180487 Nov 08, 2017 (151)
30 GNOMAD ss2967929577 Nov 08, 2017 (151)
31 SWEGEN ss3018253208 Nov 08, 2017 (151)
32 ILLUMINA ss3022123721 Nov 08, 2017 (151)
33 BIOINF_KMB_FNS_UNIBA ss3028792607 Nov 08, 2017 (151)
34 CSHL ss3352529804 Nov 08, 2017 (151)
35 TOPMED ss3361615096 Nov 08, 2017 (151)
36 ILLUMINA ss3636531687 Oct 12, 2018 (152)
37 ILLUMINA ss3652579702 Oct 12, 2018 (152)
38 EGCUT_WGS ss3684940002 Jul 13, 2019 (153)
39 EVA_DECODE ss3707033541 Jul 13, 2019 (153)
40 ILLUMINA ss3725919457 Jul 13, 2019 (153)
41 ACPOP ss3743430406 Jul 13, 2019 (153)
42 EVA ss3758697843 Jul 13, 2019 (153)
43 KHV_HUMAN_GENOMES ss3821857984 Jul 13, 2019 (153)
44 EVA ss3835693692 Apr 27, 2020 (154)
45 SGDP_PRJ ss3889193404 Apr 27, 2020 (154)
46 KRGDB ss3939491775 Apr 27, 2020 (154)
47 KOGIC ss3982370200 Apr 27, 2020 (154)
48 TOPMED ss5090183887 Apr 27, 2021 (155)
49 TOMMO_GENOMICS ss5229851583 Apr 27, 2021 (155)
50 1000Genomes NC_000020.10 - 44635976 Oct 12, 2018 (152)
51 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 44635976 Oct 12, 2018 (152)
52 Genetic variation in the Estonian population NC_000020.10 - 44635976 Oct 12, 2018 (152)
53 gnomAD - Genomes NC_000020.11 - 46007337 Apr 27, 2021 (155)
54 Genome of the Netherlands Release 5 NC_000020.10 - 44635976 Apr 27, 2020 (154)
55 KOREAN population from KRGDB NC_000020.10 - 44635976 Apr 27, 2020 (154)
56 Korean Genome Project NC_000020.11 - 46007337 Apr 27, 2020 (154)
57 Northern Sweden NC_000020.10 - 44635976 Jul 13, 2019 (153)
58 Qatari NC_000020.10 - 44635976 Apr 27, 2020 (154)
59 SGDP_PRJ NC_000020.10 - 44635976 Apr 27, 2020 (154)
60 Siberian NC_000020.10 - 44635976 Apr 27, 2020 (154)
61 8.3KJPN NC_000020.10 - 44635976 Apr 27, 2021 (155)
62 TopMed NC_000020.11 - 46007337 Apr 27, 2021 (155)
63 UK 10K study - Twins NC_000020.10 - 44635976 Oct 12, 2018 (152)
64 A Vietnamese Genetic Variation Database NC_000020.10 - 44635976 Jul 13, 2019 (153)
65 ALFA NC_000020.11 - 46007337 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss168197069, ss172116619, ss283394828, ss287463395, ss292660157, ss1698826081 NC_000020.9:44069382:C:T NC_000020.11:46007336:C:T (self)
78418765, 43412104, 30678250, 19337123, 46669169, 16715271, 20321382, 41210384, 11004076, 87820890, 43412104, 9577022, ss237846237, ss481834821, ss566275036, ss662156822, ss994765403, ss1082236023, ss1364949391, ss1429066195, ss1638875357, ss1681869390, ss1809520463, ss1938279460, ss1959919357, ss2029919815, ss2158487722, ss2409660360, ss2704180487, ss2967929577, ss3018253208, ss3022123721, ss3352529804, ss3636531687, ss3652579702, ss3684940002, ss3743430406, ss3758697843, ss3835693692, ss3889193404, ss3939491775, ss5229851583 NC_000020.10:44635975:C:T NC_000020.11:46007336:C:T (self)
553153861, 38748201, 228133018, 365292832, 8788529192, ss2243128645, ss3028792607, ss3361615096, ss3707033541, ss3725919457, ss3821857984, ss3982370200, ss5090183887 NC_000020.11:46007336:C:T NC_000020.11:46007336:C:T (self)
ss5112457, ss8318977, ss48295694, ss70380766, ss160655042 NT_011362.10:14832067:C:T NC_000020.11:46007336:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

117 citations for rs3918242
PMID Title Author Year Journal
16356191 Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study. Rodriguez-Lopez J et al. 2006 Arthritis research & therapy
17346338 Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma. Cotignola J et al. 2007 BMC medical genetics
18512818 Association of a nonsynonymous single-nucleotide polymorphism of matrix metalloproteinase 9 with giant cell arteritis. Rodríguez-Pla A et al. 2008 Arthritis and rheumatism
18802702 Association of (-1,607) 1G/2G polymorphism of matrix metalloproteinase-1 gene with knee osteoarthritis in the Turkish population (knee osteoarthritis and MMPs gene polymorphisms). Barlas IO et al. 2009 Rheumatology international
18805939 Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. Tempfer CB et al. 2009 Human reproduction update
19435423 Lack of association between matrix metalloproteinase-9 and endothelial nitric oxide synthase gene polymorphisms and coronary artery disease in Turkish population. Alp E et al. 2009 DNA and cell biology
19664242 Functional polymorphisms in matrix metalloproteinases -1, -3, -9 and -12 in relation to cervical artery dissection. Buss A et al. 2009 BMC neurology
19951401 Chronic obstructive pulmonary disease: towards pharmacogenetics. Wood AM et al. 2009 Genome medicine
20078883 Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population. Haq I et al. 2010 BMC medical genetics
20144500 Matrix metalloproteinase-9 polymorphism and risk of pelvic organ prolapse in Taiwanese women. Chen HY et al. 2010 European journal of obstetrics, gynecology, and reproductive biology
20184534 Association of matrix metalloproteinase 9 genotypes and cardiovascular disease risk factors with serum matrix metalloproteinase 9 concentrations in Taiwanese individuals. Wu S et al. 2010 Clinical chemistry and laboratory medicine
20529372 Matrix metalloproteinase-9 gene polymorphisms in nasal polyposis. Wang LF et al. 2010 BMC medical genetics
20725776 MMP9 polymorphisms and breast cancer risk: a report from the Shanghai Breast Cancer Genetics Study. Beeghly-Fadiel A et al. 2011 Breast cancer research and treatment
21146954 Genes and abdominal aortic aneurysm. Hinterseher I et al. 2011 Annals of vascular surgery
21161369 Current evidence on the relationship between four polymorphisms in the matrix metalloproteinases (MMP) gene and breast cancer risk: a meta-analysis. Zhou P et al. 2011 Breast cancer research and treatment
21244504 Association of matrix metalloproteinase gene polymorphism with temporomandibular joint degeneration. Planello AC et al. 2011 European journal of oral sciences
21437990 Functional polymorphism of matrix metalloproteinase-9 (MMP-9) gene and response to lithium prophylaxis in bipolar patients. Rybakowski JK et al. 2011 Human psychopharmacology
21455563 Analysis of matrix metalloproteinase-9 gene polymorphism -1562 C/T in patients suffering from systemic sclerosis with and without ulcers. Skarmoutsou E et al. 2011 International journal of molecular medicine
21717058 Update analysis of studies on the MMP-9 -1562 C>T polymorphism and cancer risk. Zhang LF et al. 2012 Molecular biology reports
21844877 Matrix metalloproteinase-9 genetic variations affect MMP-9 levels in obese children. Belo VA et al. 2012 International journal of obesity (2005)
22107133 Elevated plasma matrix metalloproteinase-9 protein and its gene polymorphism in patients with community-acquired pneumonia. Chiang TY et al. 2011 Clinical chemistry and laboratory medicine
22194275 Histological and genetic studies in patients with bicuspid aortic valve and ascending aorta complications. Pisano C et al. 2012 Interactive cardiovascular and thoracic surgery
22300735 Genetic predisposition factors and nasopharyngeal carcinoma risk: a review of epidemiological association studies, 2000-2011: Rosetta Stone for NPC: genetics, viral infection, and other environmental factors. Hildesheim A et al. 2012 Seminars in cancer biology
22304569 Functional polymorphism located in MMP-9 gene promoter is strongly associated with obesity. Andrade VL et al. 2012 DNA and cell biology
22348060 Association between polymorphisms in the promoter regions of matrix metalloproteinases (MMPs) and risk of cancer metastasis: a meta-analysis. Liu D et al. 2012 PloS one
22570788 Polymorphisms and haplotypes in candidate genes related to angiogenesis and endothelial dysfunction in preeclampsia. Luizon MR et al. 2012 Journal of pregnancy
22649676 Family Analysis of Linkage and Association of HLA-DRB1, CTLA4, TGFB1, IL4, CCR5, RANTES, MMP9 and TIMP1 Gene Polymorphisms with Multiple Sclerosis. Makarycheva OY et al. 2011 Acta naturae
23010359 Functional matrix metalloproteinase (MMP)-9 genetic variants modify the effects of hemodialysis on circulating MMP-9 levels. Marson BP et al. 2012 Clinica chimica acta; international journal of clinical chemistry
23257253 Expression of matrix metalloproteinase-2 and matrix metalloproteinase-9 in recurrent chronic rhinosinusitis with nasal polyposis. Wang LF et al. 2013 The Kaohsiung journal of medical sciences
23274712 Genetic polymorphisms and the risk of myocardial infarction in patients under 45 years of age. Sakowicz A et al. 2013 Biochemical genetics
23813847 The association of genetic variants of matrix metalloproteinases with abdominal aortic aneurysm: a systematic review and meta-analysis. Morris DR et al. 2014 Heart (British Cardiac Society)
23819551 Genetic polymorphisms in matrix metalloproteinases (MMPs) and tissue inhibitors of MPs (TIMPs), and bladder cancer susceptibility. Wieczorek E et al. 2013 BJU international
23819814 Association of genetic polymorphisms in matrix metalloproteinase-9 and coronary artery disease in the Chinese Han population: a case-control study. Wu HD et al. 2013 Genetic testing and molecular biomarkers
24043671 A functional single nucleotide polymorphism -1562C>T in the matrix metalloproteinase-9 promoter is associated with type 2 diabetes and diabetic foot ulcers. Singh K et al. 2013 The international journal of lower extremity wounds
24079541 The Role of Matrix Metalloproteinases Polymorphisms in Age-Related Macular Degeneration. Liutkeviciene R et al. 2015 Ophthalmic genetics
24118356 Association of MMP but not TIMP-1 gene polymorphisms with recurrent aphthous stomatitis. Karasneh JA et al. 2014 Oral diseases
24291031 Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort. Mazzotti DR et al. 2014 Gene
24357512 Gelatinase B (-1562C/T) polymorphism in tumor progression and invasion of breast cancer. Chiranjeevi P et al. 2014 Tumour biology
24613192 Association between seven single nucleotide polymorphisms involved in inflammation and proteolysis and abdominal aortic aneurysm. Saratzis A et al. 2015 Journal of vascular surgery
24834361 Update on abdominal aortic aneurysm research: from clinical to genetic studies. Kuivaniemi H et al. 2014 Scientifica
25111588 Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women. Cartwright R et al. 2015 American journal of obstetrics and gynecology
25482733 Association study of five functional polymorphisms in matrix metalloproteinase-2, -3, and -9 genes with risk of primary ovarian insufficiency in Korean women. Kim YR et al. 2015 Maturitas
25670000 MS susceptibility is not affected by single nucleotide polymorphisms in the MMP9 gene. Nischwitz S et al. 2015 Journal of neuroimmunology
25738347 MMP-9 -1562 C>T (rs3918242) promoter polymorphism as a susceptibility factor for multiple gingival recessions. Perunovic N et al. 2015 The International journal of periodontics & restorative dentistry
25890491 Association between four MMP-9 polymorphisms and breast cancer risk: a meta-analysis. Zhang X et al. 2015 Medical science monitor
26013370 Matrix metalloproteinase-9 polymorphism 1562 C > T (rs3918242) associated with protection against placental malaria. Apoorv TS et al. 2015 The American journal of tropical medicine and hygiene
26044620 Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction. Reyes-Gibby CC et al. 2015 BMC systems biology
26526578 Genetic polymorphisms in MMP 2, 3, 7, and 9 genes and the susceptibility and clinical outcome of cervical cancer in a Chinese Han population. Xie B et al. 2016 Tumour biology
26554609 MMP-9 gene polymorphisms (rs3918242, rs3918254 and rs4810482) and the risk of psoriasis vulgaris: No evidence for associations in a Chinese Han population. Liang J et al. 2015 Immunology letters
26597259 Human Polymorphisms in Placentally Expressed Genes and Their Association With Susceptibility to Congenital Trypanosoma cruzi Infection. Juiz NA et al. 2016 The Journal of infectious diseases
26754027 Genetic polymorphisms in MMP 2, 3 and 9 genes and the susceptibility of osteosarcoma in a Chinese Han population. Cui Y et al. 2016 Biomarkers
26844501 Associations of Matrix Metalloproteinase-9 and Tissue Inhibitory Factor-1 Polymorphisms With Parkinson Disease in Taiwan. Chen YC et al. 2016 Medicine
26846412 Ancestry informative markers and selected single nucleotide polymorphisms in immunoregulatory genes on preterm labor and preterm premature rupture of membranes: a case control study. Ramos BR et al. 2016 BMC pregnancy and childbirth
26884752 Single Nucleotide Polymorphisms as Prognostic and Predictive Factors of Adjuvant Chemotherapy in Colorectal Cancer of Stages I and II. Horvat M et al. 2016 Gastroenterology research and practice
27146834 Plasma matrix metalloproteinase-9 levels, MMP-9 gene haplotypes, and cardiovascular risk in obese subjects. Luizon MR et al. 2016 Molecular biology reports
27270564 Gene-environment interaction between the MMP9 C-1562T promoter variant and cigarette smoke in the pathogenesis of chronic obstructive pulmonary disease. Stankovic M et al. 2016 Environmental and molecular mutagenesis
27272641 Association of Matrix Metalloproteinase-9 (MMP9) Variants with Primary Angle Closure and Primary Angle Closure Glaucoma. Chen X et al. 2016 PloS one
27525925 Investigation of the association between matrix metalloproteinase-9 genetic polymorphisms and development of pre-eclampsia in Chinese pregnant women. Sun C et al. 2016 Genetics and molecular research
27620811 Associations between various possible promoter polymorphisms of MMPs genes and endometriosis risk: a meta-analysis. Yang H et al. 2016 European journal of obstetrics, gynecology, and reproductive biology
28002595 Matrix metalloproteinase gene polymorphisms and susceptibility to systemic sclerosis. Rech TF et al. 2016 Genetics and molecular research
28258806 Association between the Matrix Metalloproteinase-9 rs3918242 Polymorphism and Ischemic Stroke Susceptibility: A Meta-Analysis. He T et al. 2017 Journal of stroke and cerebrovascular diseases
28390432 Impact of matrix metalloproteinase 9 rs3918242 genetic variant on lipid-lowering efficacy of simvastatin therapy in Chinese patients with coronary heart disease. Xu Y et al. 2017 BMC pharmacology & toxicology
28400830 Plasma concentration, genetic variation, and gene expression levels of matrix metalloproteinase 9 in Iranian patients with coronary artery disease. Mahmoodi K et al. 2017 Journal of research in medical sciences
28431514 Associations between matrix metalloproteinase gene polymorphisms and glaucoma susceptibility: a meta-analysis. Wu MY et al. 2017 BMC ophthalmology
28521653 Matrix metalloproteinase-3 gene polymorphism (rs3025058) affects markers atherosclerosis in type 2 diabetes mellitus. Pleskovič A et al. 2017 VASA. Zeitschrift fur Gefasskrankheiten
28719899 The Relationship Between MMP-2 -1306C>T and MMP-9 -1562C>T Polymorphisms and the Risk and Prognosis of T-Cell Acute Lymphoblastic Leukemia in a Chinese Population: A Case-Control Study. Lin CM et al. 2017 Cellular physiology and biochemistry
28949773 Gene-Gene Interactions Between Glutathione S-Transferase M1 and Matrix Metalloproteinases 1, 9, and 12 in Chronic Obstructive Pulmonary Disease in Serbians. Stankovic M et al. 2017 COPD
28980922 rs3918242 variant genotype frequency and increased TIMP-2 and MMP-9 expression are positively correlated with cancer invasion in urinary bladder cancer. Pençe S et al. 2017 Cellular and molecular biology (Noisy-le-Grand, France)
29041886 [Polymorphisms in Genes of Cytokines and Matrix Metalloproteinases Associated With Ischemic Heart Disease in Patients With Type 2 Diabetes]. Klimontov VV et al. 2017 Kardiologiia
29043698 Gene Polymorphism of Matrix Metalloproteinase 9 in Asthenozoospermic Male Subjects. Mohagheghi S et al. 2018 International journal of fertility & sterility
29288728 The rs243866/243865 polymorphisms in MMP-2 gene and the relationship with BP control in obese resistant hypertensive subjects. Ritter AMV et al. 2018 Gene
29288745 A translational approach to the genetics of anxiety disorders. McGregor NW et al. 2018 Behavioural brain research
29309889 Matrix metalloproteinase and tissue inhibitors of metalloproteinases gene polymorphisms in disorders that influence fertility and pregnancy complications: A systematic review and meta-analysis. Barišić A et al. 2018 Gene
29507703 Association between matrix metalloproteinase 9 C-1562T polymorphism and the risk of coronary artery disease: an update systematic review and meta-analysis. Zhang MM et al. 2018 Oncotarget
29739236 Risk Factor Assessment in a Greek Cohort of Patients With Large Abdominal Aortic Aneurysms. Makrygiannis G et al. 2019 Angiology
29763368 Matrix metalloproteinase-9 gene polymorphisms and their interaction with environment on subarachnoid hemorrhage risk. Wang T et al. 2018 Experimental biology and medicine (Maywood, N.J.)
29890308 Association between MMP-9 -1562 C/T polymorphism and susceptibility to digestive cancers: A meta-analysis. Hu C et al. 2018 Gene
30132967 MMP-9 gene rs3918242 polymorphism increases risk of stroke: A meta-analysis. Wang B et al. 2018 Journal of cellular biochemistry
30290617 The association of polymorphisms in promoter region of MMP2 and MMP9 with recurrent spontaneous abortion risk in Chinese population. Li L et al. 2018 Medicine
30337837 Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis. Wen J et al. 2018 Cancer cell international
30391947 Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns? Prasun P et al. 2018 Developmental neuroscience
30392570 Correlations of MMP-2 and MMP-9 gene polymorphisms with the risk of hepatopulmonary syndrome in cirrhotic patients: A case-control study. Liu JW et al. 2018 The Kaohsiung journal of medical sciences
30643813 Impact of Matrix Metalloproteinase 9 on COPD Development in Polish Patients: Genetic Polymorphism, Protein Level, and Their Relationship with Lung Function. Gilowska I et al. 2018 BioMed research international
30668668 Sequence Variation Associated with SLC12A5 Gene Expression Is Linked to Brain Structure and Function in Healthy Adults. Gregory MD et al. 2019 Cerebral cortex (New York, N.Y.
30781715 Genetic Epidemiology of Breast Cancer in Latin America. Zavala VA et al. 2019 Genes
30931075 Association of Matrix Metalloproteinase 9 (<i>MMP-9</i>) Polymorphisms with Asthma Risk: A Meta-Analysis. Zou F et al. 2019 Canadian respiratory journal
31012282 Matrix metalloproteinase-9 gene polymorphisms are associated with ischemic stroke severity and early neurologic deterioration in patients with atrial fibrillation. Yi X et al. 2019 Brain and behavior
31065235 <i>IL18</i> Polymorphism and Periodontitis Susceptibility, Regardless of <i>IL12B</i>, <i>MMP9</i>, and Smoking Habits. Tsuneto PY et al. 2019 Mediators of inflammation
31074588 Variants in matrix metalloproteinase-9 gene are associated with hemorrhagic transformation in acute ischemic stroke patients with atherothrombosis, small artery disease, and cardioembolic stroke. Yi X et al. 2019 Brain and behavior
31082619 Matrix metalloproteases 9 rs3918242 gene polymorphism and serum vit D in MS Egyptian patients. Ibrahim I et al. 2019 Multiple sclerosis and related disorders
31094241 The association of functional polymorphism of matrix metalloproteinase-9 gene (<i>rs3918242</i>) with schizophrenia: a meta-analysis. Xia QR et al. 2019 International journal of psychiatry in clinical practice
31110439 Association of matrix metalloproteinase 2 and matrix metalloproteinase 9 gene polymorphism in aggressive and nonaggressive odontogenic lesions: A pilot study. Aloka D et al. 2019 Journal of oral and maxillofacial pathology
31192912 MMP-2 and MMP-9 gene polymorphisms act as biological indicators for ulinastatin efficacy in patients with severe acute pancreatitis. Ling L et al. 2019 Medicine
31231424 Genetic and Epigenetic Studies in Diabetic Kidney Disease. Gu HF et al. 2019 Frontiers in genetics
31415895 Influence of the Matrix Metalloproteinase 9 Geners3918242 Polymorphism on Development of Ischemic Stroke: A Meta-analysis. Wu G et al. 2020 World neurosurgery
31622289 Matrix metalloprotease-9 polymorphism and its association with Atherosclerosis - A case-control study in Pakistani population. Malkani N et al. 2019 JPMA. The Journal of the Pakistan Medical Association
31713905 Role of matrix metalloproteinase-9 gene polymorphisms in glaucoma: A hospital-based study in Chinese patients. Zhao F et al. 2020 Journal of clinical laboratory analysis
31810917 Association of Matrix Metalloproteinase-9 rs3918242 Promoter Genotypes With Colorectal Cancer Risk. Wu MH et al. 2019 Anticancer research
31909567 Interactions among variants in P53 apoptotic pathway genes are associated with neurologic deterioration and functional outcome after acute ischemic stroke. Yi X et al. 2021 Brain and behavior
31928425 The Association Between Extracellular Matrix Metalloproteinase Inducer Polymorphisms and Coronary Heart Disease: A Potential Way to Predict Disease. Weng Y et al. 2020 DNA and cell biology
31933905 Relationship between the matrix metalloproteinase-9 gene polymorphisms and ischemic stroke. Wang Y et al. 2019 International journal of clinical and experimental pathology
31955640 Association of MMP-2, MMP-3, and MMP-9 Polymorphisms with Susceptibility to Recurrent Pregnancy Loss. Behforouz A et al. 2021 Fetal and pediatric pathology
31968135 Gene variability in matrix metalloproteinases in patients with recurrent aphthous stomatitis. Slezakova S et al. 2020 Journal of oral pathology & medicine
32394348 Association between the polymorphisms in MMP-2 and MMP-9 with adiposity and mammographic features. Dofara SG et al. 2020 Breast cancer research and treatment
32447054 Association of matrix metalloproteinase-9 polymorphism with severity of Guillain-Barré syndrome. Hayat S et al. 2020 Journal of the neurological sciences
32471473 Matrix metalloproteinases (MMPs) family gene polymorphisms and the risk of multiple sclerosis: systematic review and meta-analysis. Mohammadhosayni M et al. 2020 BMC neurology
32695863 Dataset of allele and genotype frequencies of the three functionally significant polymorphisms of the MMP genes in Russian patients with primary open-angle glaucoma, essential hypertension and peptic ulcer. Minyaylo O et al. 2020 Data in brief
32727782 The Contribution of <i>MMP-9</i> Genotypes to Pterygium in Taiwan. Tsai CB et al. 2020 Anticancer research
32739585 Association between matrix metalloproteinase 9 polymorphisms and breast cancer risk: An updated meta-analysis and trial sequential analysis. Xu T et al. 2020 Gene
32756173 MMP-9-C1562T polymorphism and susceptibility to chronic obstructive pulmonary disease: A meta-analysis. Zhao R et al. 2020 Medicine
32799785 Impact of Matrix Metalloproteinases 2 and 9 and Tissue Inhibitor of Metalloproteinase 2 Gene Polymorphisms on Allograft Rejection in Pediatric Renal Transplant Recipients. Akad Dincer S et al. 2020 Experimental and clinical transplantation
32988902 Contribution of Matrix Metalloproteinase-9 rs3918242 Genotypes to Childhood Leukemia Risk. Kuo CC et al. 2020 Anticancer research
33237244 Polymorphisms of matrix metalloproteinase-7 and -9 are associated with oral tongue squamous cell carcinoma. Nascimento GJFD et al. 2020 Brazilian oral research
33471544 Investigation of association between genetic polymorphisms of MMP2, MMP8, MMP9 and TIMP2 and development of varicose veins in the Slovak Population - pilot study. Mazuchová J et al. 2020 Physiological research
33517948 How matrix metalloproteinase (<i>MMP</i>)-<i>9</i> (rs3918242) polymorphism affects <i>MMP-9</i> serum concentration and associates with autism spectrum disorders: A case-control study in Iranian population. Lord JR et al. 2021 Development and psychopathology
33579197 Investigation of association of genetic variant rs3918242 of matrix metalloproteinase-9 with hypertension, myocardial infarction and progression of ventricular dysfunction in Irish Caucasian patients with diabetes: a report from the STOP-HF follow-up programme. Watson C et al. 2021 BMC cardiovascular disorders
33659210 A Review of Cancer Genetics and Genomics Studies in Africa. Rotimi SO et al. 2020 Frontiers in oncology
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post596+ae089ad