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.
rs17576
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr20:46011586 (GRCh38.p14) 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
- A>C / A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.355297 (101305/285128, ALFA)G=0.355012 (93968/264690, TOPMED)G=0.389253 (97838/251348, GnomAD_exome) (+ 26 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- MMP9 : Missense Variant
- Publications
- 119 citations
- Genomic View
- See rs on genome
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.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 285344 | A=0.644703 | G=0.355297 |
European | Sub | 241282 | A=0.644702 | G=0.355298 |
African | Sub | 10930 | A=0.65618 | G=0.34382 |
African Others | Sub | 358 | A=0.676 | G=0.324 |
African American | Sub | 10572 | A=0.65551 | G=0.34449 |
Asian | Sub | 816 | A=0.245 | G=0.755 |
East Asian | Sub | 616 | A=0.245 | G=0.755 |
Other Asian | Sub | 200 | A=0.245 | G=0.755 |
Latin American 1 | Sub | 1188 | A=0.6675 | G=0.3325 |
Latin American 2 | Sub | 6898 | A=0.7744 | G=0.2256 |
South Asian | Sub | 5050 | A=0.5176 | G=0.4824 |
Other | Sub | 19180 | A=0.64056 | G=0.35944 |
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").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
Allele Frequency Aggregator | Total | Global | 285128 | A=0.644703 | G=0.355297 |
Allele Frequency Aggregator | European | Sub | 241102 | A=0.644690 | G=0.355310 |
Allele Frequency Aggregator | Other | Sub | 19158 | A=0.64072 | G=0.35928 |
Allele Frequency Aggregator | African | Sub | 10916 | A=0.65619 | G=0.34381 |
Allele Frequency Aggregator | Latin American 2 | Sub | 6898 | A=0.7744 | G=0.2256 |
Allele Frequency Aggregator | South Asian | Sub | 5050 | A=0.5176 | G=0.4824 |
Allele Frequency Aggregator | Latin American 1 | Sub | 1188 | A=0.6675 | G=0.3325 |
Allele Frequency Aggregator | Asian | Sub | 816 | A=0.245 | G=0.755 |
TopMed | Global | Study-wide | 264690 | A=0.644988 | G=0.355012 |
gnomAD - Exomes | Global | Study-wide | 251348 | A=0.610747 | G=0.389253 |
gnomAD - Exomes | European | Sub | 135310 | A=0.636686 | G=0.363314 |
gnomAD - Exomes | Asian | Sub | 49000 | A=0.40649 | G=0.59351 |
gnomAD - Exomes | American | Sub | 34580 | A=0.77481 | G=0.22519 |
gnomAD - Exomes | African | Sub | 16242 | A=0.65811 | G=0.34189 |
gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | A=0.60506 | G=0.39494 |
gnomAD - Exomes | Other | Sub | 6136 | A=0.6292 | G=0.3708 |
gnomAD - Genomes | Global | Study-wide | 139504 | A=0.640878 | G=0.359122 |
gnomAD - Genomes | European | Sub | 75610 | A=0.63419 | G=0.36581 |
gnomAD - Genomes | African | Sub | 41730 | A=0.65560 | G=0.34440 |
gnomAD - Genomes | American | Sub | 13606 | A=0.72483 | G=0.27517 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3314 | A=0.6119 | G=0.3881 |
gnomAD - Genomes | East Asian | Sub | 3114 | A=0.2575 | G=0.7425 |
gnomAD - Genomes | Other | Sub | 2130 | A=0.6592 | G=0.3408 |
ExAC | Global | Study-wide | 121284 | A=0.607978 | G=0.392022 |
ExAC | Europe | Sub | 73258 | A=0.63927 | G=0.36073 |
ExAC | Asian | Sub | 25154 | A=0.41409 | G=0.58591 |
ExAC | American | Sub | 11570 | A=0.78418 | G=0.21582 |
ExAC | African | Sub | 10398 | A=0.66244 | G=0.33756 |
ExAC | Other | Sub | 904 | A=0.585 | G=0.415 |
The PAGE Study | Global | Study-wide | 78442 | A=0.62319 | G=0.37681 |
The PAGE Study | AfricanAmerican | Sub | 32510 | A=0.65088 | G=0.34912 |
The PAGE Study | Mexican | Sub | 10810 | A=0.75615 | G=0.24385 |
The PAGE Study | Asian | Sub | 8104 | A=0.3291 | G=0.6709 |
The PAGE Study | PuertoRican | Sub | 7916 | A=0.6825 | G=0.3175 |
The PAGE Study | NativeHawaiian | Sub | 4504 | A=0.3353 | G=0.6647 |
The PAGE Study | Cuban | Sub | 4230 | A=0.6409 | G=0.3591 |
The PAGE Study | Dominican | Sub | 3828 | A=0.6855 | G=0.3145 |
The PAGE Study | CentralAmerican | Sub | 2450 | A=0.7433 | G=0.2567 |
The PAGE Study | SouthAmerican | Sub | 1980 | A=0.7828 | G=0.2172 |
The PAGE Study | NativeAmerican | Sub | 1258 | A=0.6884 | G=0.3116 |
The PAGE Study | SouthAsian | Sub | 852 | A=0.467 | G=0.533 |
14KJPN | JAPANESE | Study-wide | 28252 | A=0.35389 | G=0.64611 |
8.3KJPN | JAPANESE | Study-wide | 16756 | A=0.35563 | G=0.64437 |
GO Exome Sequencing Project | Global | Study-wide | 13006 | A=0.65216 | G=0.34784 |
GO Exome Sequencing Project | European American | Sub | 8600 | A=0.6522 | G=0.3478 |
GO Exome Sequencing Project | African American | Sub | 4406 | A=0.6521 | G=0.3479 |
1000Genomes_30x | Global | Study-wide | 6404 | A=0.5586 | G=0.4414 |
1000Genomes_30x | African | Sub | 1786 | A=0.6685 | G=0.3315 |
1000Genomes_30x | Europe | Sub | 1266 | A=0.6232 | G=0.3768 |
1000Genomes_30x | South Asian | Sub | 1202 | A=0.4567 | G=0.5433 |
1000Genomes_30x | East Asian | Sub | 1170 | A=0.2556 | G=0.7444 |
1000Genomes_30x | American | Sub | 980 | A=0.761 | G=0.239 |
1000Genomes | Global | Study-wide | 5008 | A=0.5445 | G=0.4555 |
1000Genomes | African | Sub | 1322 | A=0.6558 | G=0.3442 |
1000Genomes | East Asian | Sub | 1008 | A=0.2609 | G=0.7391 |
1000Genomes | Europe | Sub | 1006 | A=0.6193 | G=0.3807 |
1000Genomes | South Asian | Sub | 978 | A=0.448 | G=0.552 |
1000Genomes | American | Sub | 694 | A=0.772 | G=0.228 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.5737 | G=0.4263 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.6417 | G=0.3583 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.6448 | G=0.3552 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.3150 | C=0.0000, G=0.6850, T=0.0000 |
HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | A=0.5845 | G=0.4155 |
HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | A=0.343 | G=0.657 |
HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | A=0.534 | G=0.466 |
HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | A=0.663 | G=0.337 |
HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | A=0.706 | G=0.294 |
HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | A=0.550 | G=0.450 |
HGDP-CEPH-db Supplement 1 | America | Sub | 216 | A=0.912 | G=0.088 |
HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | A=0.67 | G=0.33 |
HapMap | Global | Study-wide | 1892 | A=0.5317 | G=0.4683 |
HapMap | American | Sub | 770 | A=0.514 | G=0.486 |
HapMap | African | Sub | 692 | A=0.605 | G=0.395 |
HapMap | Asian | Sub | 254 | A=0.311 | G=0.689 |
HapMap | Europe | Sub | 176 | A=0.636 | G=0.364 |
Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.3291 | G=0.6709 |
Genome-wide autozygosity in Daghestan | Global | Study-wide | 1116 | A=0.6013 | G=0.3987 |
Genome-wide autozygosity in Daghestan | Daghestan | Sub | 616 | A=0.599 | G=0.401 |
Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | A=0.708 | G=0.292 |
Genome-wide autozygosity in Daghestan | Central Asia | Sub | 116 | A=0.586 | G=0.414 |
Genome-wide autozygosity in Daghestan | Europe | Sub | 106 | A=0.651 | G=0.349 |
Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | A=0.40 | G=0.60 |
Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=0.67 | G=0.33 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.637 | G=0.363 |
CNV burdens in cranial meningiomas | Global | Study-wide | 768 | A=0.310 | G=0.690 |
CNV burdens in cranial meningiomas | CRM | Sub | 768 | A=0.310 | G=0.690 |
Northern Sweden | ACPOP | Study-wide | 600 | A=0.610 | G=0.390 |
Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.687 | G=0.313 |
SGDP_PRJ | Global | Study-wide | 338 | A=0.311 | G=0.689 |
FINRISK | Finnish from FINRISK project | Study-wide | 304 | A=0.625 | G=0.375 |
Qatari | Global | Study-wide | 216 | A=0.606 | G=0.394 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 88 | A=0.75 | G=0.25 |
The Danish reference pan genome | Danish | Study-wide | 40 | A=0.57 | G=0.42 |
Siberian | Global | Study-wide | 36 | A=0.42 | G=0.58 |
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.
Sequence name | Change |
---|---|
GRCh38.p14 chr 20 | NC_000020.11:g.46011586A>C |
GRCh38.p14 chr 20 | NC_000020.11:g.46011586A>G |
GRCh38.p14 chr 20 | NC_000020.11:g.46011586A>T |
GRCh37.p13 chr 20 | NC_000020.10:g.44640225A>C |
GRCh37.p13 chr 20 | NC_000020.10:g.44640225A>G |
GRCh37.p13 chr 20 | NC_000020.10:g.44640225A>T |
MMP9 RefSeqGene | NG_011468.1:g.7679A>C |
MMP9 RefSeqGene | NG_011468.1:g.7679A>G |
MMP9 RefSeqGene | NG_011468.1:g.7679A>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
MMP9 transcript | NM_004994.3:c.836A>C | Q [CAG] > P [CCG] | Coding Sequence Variant |
matrix metalloproteinase-9 preproprotein | NP_004985.2:p.Gln279Pro | Q (Gln) > P (Pro) | Missense Variant |
MMP9 transcript | NM_004994.3:c.836A>G | Q [CAG] > R [CGG] | Coding Sequence Variant |
matrix metalloproteinase-9 preproprotein | NP_004985.2:p.Gln279Arg | Q (Gln) > R (Arg) | Missense Variant |
MMP9 transcript | NM_004994.3:c.836A>T | Q [CAG] > L [CTG] | Coding Sequence Variant |
matrix metalloproteinase-9 preproprotein | NP_004985.2:p.Gln279Leu | Q (Gln) > L (Leu) | Missense Variant |
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.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000299484.5 | Metaphyseal anadysplasia 2 | Benign |
RCV001520775.5 | not provided | Benign |
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 | A= | C | G | T |
---|---|---|---|---|
GRCh38.p14 chr 20 | NC_000020.11:g.46011586= | NC_000020.11:g.46011586A>C | NC_000020.11:g.46011586A>G | NC_000020.11:g.46011586A>T |
GRCh37.p13 chr 20 | NC_000020.10:g.44640225= | NC_000020.10:g.44640225A>C | NC_000020.10:g.44640225A>G | NC_000020.10:g.44640225A>T |
MMP9 RefSeqGene | NG_011468.1:g.7679= | NG_011468.1:g.7679A>C | NG_011468.1:g.7679A>G | NG_011468.1:g.7679A>T |
MMP9 transcript | NM_004994.3:c.836= | NM_004994.3:c.836A>C | NM_004994.3:c.836A>G | NM_004994.3:c.836A>T |
MMP9 transcript | NM_004994.2:c.836= | NM_004994.2:c.836A>C | NM_004994.2:c.836A>G | NM_004994.2:c.836A>T |
matrix metalloproteinase-9 preproprotein | NP_004985.2:p.Gln279= | NP_004985.2:p.Gln279Pro | NP_004985.2:p.Gln279Arg | NP_004985.2:p.Gln279Leu |
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#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | WIAF-CSNP | ss20187 | Dec 09, 1999 (63) |
2 | SC_PD | ss3758674 | Sep 28, 2001 (126) |
3 | PGA-UW-FHCRC | ss5112470 | Oct 08, 2002 (126) |
4 | BGI | ss5590719 | Dec 12, 2002 (126) |
5 | SC_SNP | ss8338714 | Apr 21, 2003 (126) |
6 | WI_SSAHASNP | ss12489923 | Jul 11, 2003 (126) |
7 | WIPGA | ss16338512 | Feb 27, 2004 (126) |
8 | CSHL-HAPMAP | ss16896405 | Feb 27, 2004 (126) |
9 | SSAHASNP | ss21777374 | Apr 05, 2004 (126) |
10 | PERLEGEN | ss23574543 | Sep 20, 2004 (126) |
11 | MGC_GENOME_DIFF | ss28497454 | Sep 24, 2004 (126) |
12 | MGC_GENOME_DIFF | ss28512153 | Sep 24, 2004 (126) |
13 | ABI | ss44216184 | Mar 10, 2006 (126) |
14 | PGA-UW-FHCRC | ss52088133 | Oct 16, 2006 (127) |
15 | ILLUMINA | ss65727100 | Oct 16, 2006 (127) |
16 | SHGC | ss66538981 | Dec 02, 2006 (127) |
17 | ILLUMINA | ss66777030 | Dec 02, 2006 (127) |
18 | ILLUMINA | ss67266343 | Dec 02, 2006 (127) |
19 | ILLUMINA | ss67666311 | Dec 02, 2006 (127) |
20 | PERLEGEN | ss69242597 | May 18, 2007 (127) |
21 | EGP_SNPS | ss70380798 | May 18, 2007 (127) |
22 | ILLUMINA | ss70744753 | May 26, 2008 (130) |
23 | ILLUMINA | ss71316282 | May 18, 2007 (127) |
24 | AFFY | ss74806581 | Aug 16, 2007 (128) |
25 | ILLUMINA | ss75777896 | Dec 06, 2007 (129) |
26 | CGM_KYOTO | ss76873855 | Dec 06, 2007 (129) |
27 | SI_EXO | ss76888377 | Dec 06, 2007 (129) |
28 | ILLUMINA | ss79142626 | Dec 16, 2007 (130) |
29 | HGSV | ss79766636 | Dec 16, 2007 (130) |
30 | KRIBB_YJKIM | ss80743717 | Dec 16, 2007 (130) |
31 | KRIBB_YJKIM | ss83352063 | Dec 16, 2007 (130) |
32 | CANCER-GENOME | ss86347706 | Mar 23, 2008 (129) |
33 | BGI | ss106190863 | Feb 06, 2009 (130) |
34 | ILLUMINA-UK | ss117558040 | Feb 14, 2009 (130) |
35 | ILLUMINA | ss122079894 | Dec 01, 2009 (131) |
36 | ENSEMBL | ss135706352 | Dec 01, 2009 (131) |
37 | ILLUMINA | ss153692501 | Dec 01, 2009 (131) |
38 | GMI | ss156466362 | Dec 01, 2009 (131) |
39 | ILLUMINA | ss159321161 | Dec 01, 2009 (131) |
40 | SEATTLESEQ | ss159742491 | Dec 01, 2009 (131) |
41 | ILLUMINA | ss160448292 | Dec 01, 2009 (131) |
42 | COMPLETE_GENOMICS | ss168197129 | Jul 04, 2010 (132) |
43 | ILLUMINA | ss170793341 | Jul 04, 2010 (132) |
44 | COMPLETE_GENOMICS | ss172116643 | Jul 04, 2010 (132) |
45 | ILLUMINA | ss172852844 | Jul 04, 2010 (132) |
46 | BUSHMAN | ss203900831 | Jul 04, 2010 (132) |
47 | 1000GENOMES | ss228373362 | Jul 14, 2010 (132) |
48 | 1000GENOMES | ss237846252 | Jul 15, 2010 (132) |
49 | 1000GENOMES | ss244014307 | Jul 15, 2010 (132) |
50 | BL | ss255667631 | May 09, 2011 (134) |
51 | GMI | ss283394837 | May 04, 2012 (137) |
52 | GMI | ss287463399 | Apr 25, 2013 (138) |
53 | PJP | ss292660164 | May 09, 2011 (134) |
54 | NHLBI-ESP | ss342523518 | May 09, 2011 (134) |
55 | ILLUMINA | ss410914357 | Sep 17, 2011 (135) |
56 | ILLUMINA | ss480255039 | May 04, 2012 (137) |
57 | ILLUMINA | ss480265935 | May 04, 2012 (137) |
58 | ILLUMINA | ss481009183 | Sep 08, 2015 (146) |
59 | ILLUMINA | ss484925468 | May 04, 2012 (137) |
60 | 1000GENOMES | ss491178305 | May 04, 2012 (137) |
61 | GSK-GENETICS | ss491263579 | May 04, 2012 (137) |
62 | EXOME_CHIP | ss491561680 | May 04, 2012 (137) |
63 | CLINSEQ_SNP | ss491810630 | May 04, 2012 (137) |
64 | ILLUMINA | ss536974673 | Sep 08, 2015 (146) |
65 | TISHKOFF | ss566275047 | Apr 25, 2013 (138) |
66 | SSMP | ss662156843 | Apr 25, 2013 (138) |
67 | ILLUMINA | ss779058329 | Aug 21, 2014 (142) |
68 | ILLUMINA | ss780755427 | Sep 08, 2015 (146) |
69 | ILLUMINA | ss782909063 | Aug 21, 2014 (142) |
70 | ILLUMINA | ss783433794 | Sep 08, 2015 (146) |
71 | ILLUMINA | ss783872302 | Aug 21, 2014 (142) |
72 | ILLUMINA | ss825473144 | Apr 01, 2015 (144) |
73 | ILLUMINA | ss832163973 | Apr 01, 2015 (144) |
74 | ILLUMINA | ss832833195 | Aug 21, 2014 (142) |
75 | ILLUMINA | ss833424025 | Aug 21, 2014 (142) |
76 | ILLUMINA | ss834521444 | Aug 21, 2014 (142) |
77 | JMKIDD_LAB | ss974509998 | Aug 21, 2014 (142) |
78 | EVA-GONL | ss994765429 | Aug 21, 2014 (142) |
79 | JMKIDD_LAB | ss1067598763 | Aug 21, 2014 (142) |
80 | JMKIDD_LAB | ss1082236035 | Aug 21, 2014 (142) |
81 | 1000GENOMES | ss1364949522 | Aug 21, 2014 (142) |
82 | HAMMER_LAB | ss1397770222 | Sep 08, 2015 (146) |
83 | DDI | ss1429066200 | Apr 01, 2015 (144) |
84 | EVA_GENOME_DK | ss1579522373 | Apr 01, 2015 (144) |
85 | EVA_FINRISK | ss1584123320 | Apr 01, 2015 (144) |
86 | EVA_UK10K_ALSPAC | ss1638875417 | Apr 01, 2015 (144) |
87 | EVA_UK10K_TWINSUK | ss1681869450 | Apr 01, 2015 (144) |
88 | EVA_EXAC | ss1694020688 | Apr 01, 2015 (144) |
89 | EVA_DECODE | ss1698826114 | Apr 01, 2015 (144) |
90 | EVA_MGP | ss1711542662 | Apr 01, 2015 (144) |
91 | EVA_SVP | ss1713697170 | Apr 01, 2015 (144) |
92 | ILLUMINA | ss1752388737 | Sep 08, 2015 (146) |
93 | ILLUMINA | ss1752388738 | Sep 08, 2015 (146) |
94 | HAMMER_LAB | ss1809520475 | Sep 08, 2015 (146) |
95 | ILLUMINA | ss1917947958 | Feb 12, 2016 (147) |
96 | WEILL_CORNELL_DGM | ss1938279486 | Feb 12, 2016 (147) |
97 | ILLUMINA | ss1946553525 | Feb 12, 2016 (147) |
98 | ILLUMINA | ss1959919371 | Feb 12, 2016 (147) |
99 | GENOMED | ss1969141425 | Jul 19, 2016 (147) |
100 | JJLAB | ss2029919827 | Sep 14, 2016 (149) |
101 | ILLUMINA | ss2094918930 | Dec 20, 2016 (150) |
102 | USC_VALOUEV | ss2158487737 | Dec 20, 2016 (150) |
103 | HUMAN_LONGEVITY | ss2243128900 | Dec 20, 2016 (150) |
104 | SYSTEMSBIOZJU | ss2629453399 | Nov 08, 2017 (151) |
105 | ILLUMINA | ss2633803297 | Nov 08, 2017 (151) |
106 | ILLUMINA | ss2635106186 | Nov 08, 2017 (151) |
107 | GRF | ss2704180506 | Nov 08, 2017 (151) |
108 | GNOMAD | ss2744644408 | Nov 08, 2017 (151) |
109 | GNOMAD | ss2750393721 | Nov 08, 2017 (151) |
110 | GNOMAD | ss2967929896 | Nov 08, 2017 (151) |
111 | AFFY | ss2985216792 | Nov 08, 2017 (151) |
112 | SWEGEN | ss3018253264 | Nov 08, 2017 (151) |
113 | ILLUMINA | ss3022123736 | Nov 08, 2017 (151) |
114 | EVA_SAMSUNG_MC | ss3023072984 | Nov 08, 2017 (151) |
115 | BIOINF_KMB_FNS_UNIBA | ss3028792612 | Nov 08, 2017 (151) |
116 | CSHL | ss3352529818 | Nov 08, 2017 (151) |
117 | ILLUMINA | ss3628401829 | Oct 12, 2018 (152) |
118 | ILLUMINA | ss3628401830 | Oct 12, 2018 (152) |
119 | ILLUMINA | ss3631759551 | Oct 12, 2018 (152) |
120 | ILLUMINA | ss3633252422 | Oct 12, 2018 (152) |
121 | ILLUMINA | ss3633966615 | Oct 12, 2018 (152) |
122 | ILLUMINA | ss3634838054 | Oct 12, 2018 (152) |
123 | ILLUMINA | ss3634838055 | Oct 12, 2018 (152) |
124 | ILLUMINA | ss3635651667 | Oct 12, 2018 (152) |
125 | ILLUMINA | ss3636531692 | Oct 12, 2018 (152) |
126 | ILLUMINA | ss3637403756 | Oct 12, 2018 (152) |
127 | ILLUMINA | ss3638348537 | Oct 12, 2018 (152) |
128 | ILLUMINA | ss3639177522 | Oct 12, 2018 (152) |
129 | ILLUMINA | ss3639603158 | Oct 12, 2018 (152) |
130 | ILLUMINA | ss3640545352 | Oct 12, 2018 (152) |
131 | ILLUMINA | ss3640545353 | Oct 12, 2018 (152) |
132 | ILLUMINA | ss3643311118 | Oct 12, 2018 (152) |
133 | ILLUMINA | ss3644783922 | Oct 12, 2018 (152) |
134 | OMUKHERJEE_ADBS | ss3646550416 | Oct 12, 2018 (152) |
135 | URBANLAB | ss3651028181 | Oct 12, 2018 (152) |
136 | ILLUMINA | ss3652579726 | Oct 12, 2018 (152) |
137 | ILLUMINA | ss3653985798 | Oct 12, 2018 (152) |
138 | EGCUT_WGS | ss3684940051 | Jul 13, 2019 (153) |
139 | EVA_DECODE | ss3707033612 | Jul 13, 2019 (153) |
140 | ILLUMINA | ss3725919472 | Jul 13, 2019 (153) |
141 | ACPOP | ss3743430437 | Jul 13, 2019 (153) |
142 | ILLUMINA | ss3744494511 | Jul 13, 2019 (153) |
143 | ILLUMINA | ss3745137950 | Jul 13, 2019 (153) |
144 | ILLUMINA | ss3745137951 | Jul 13, 2019 (153) |
145 | EVA | ss3758697873 | Jul 13, 2019 (153) |
146 | PAGE_CC | ss3772051243 | Jul 13, 2019 (153) |
147 | ILLUMINA | ss3772634119 | Jul 13, 2019 (153) |
148 | ILLUMINA | ss3772634120 | Jul 13, 2019 (153) |
149 | KHV_HUMAN_GENOMES | ss3821858011 | Jul 13, 2019 (153) |
150 | EVA | ss3825376704 | Apr 27, 2020 (154) |
151 | EVA | ss3825533743 | Apr 27, 2020 (154) |
152 | EVA | ss3825548048 | Apr 27, 2020 (154) |
153 | EVA | ss3825954036 | Apr 27, 2020 (154) |
154 | EVA | ss3835693706 | Apr 27, 2020 (154) |
155 | HGDP | ss3847668599 | Apr 27, 2020 (154) |
156 | SGDP_PRJ | ss3889193470 | Apr 27, 2020 (154) |
157 | KRGDB | ss3939491842 | Apr 27, 2020 (154) |
158 | KOGIC | ss3982370268 | Apr 27, 2020 (154) |
159 | FSA-LAB | ss3984217966 | Apr 26, 2021 (155) |
160 | EVA | ss3984750621 | Apr 26, 2021 (155) |
161 | EVA | ss3985881976 | Apr 26, 2021 (155) |
162 | EVA | ss3986084505 | Apr 26, 2021 (155) |
163 | EVA | ss3986833277 | Apr 26, 2021 (155) |
164 | EVA | ss4017850336 | Apr 26, 2021 (155) |
165 | TOPMED | ss5090184963 | Apr 26, 2021 (155) |
166 | TOMMO_GENOMICS | ss5229851741 | Apr 26, 2021 (155) |
167 | EVA | ss5236983945 | Apr 26, 2021 (155) |
168 | EVA | ss5237674572 | Oct 16, 2022 (156) |
169 | 1000G_HIGH_COVERAGE | ss5308955033 | Oct 16, 2022 (156) |
170 | TRAN_CS_UWATERLOO | ss5314455686 | Oct 16, 2022 (156) |
171 | EVA | ss5316010518 | Oct 16, 2022 (156) |
172 | EVA | ss5437694892 | Oct 16, 2022 (156) |
173 | HUGCELL_USP | ss5501218450 | Oct 16, 2022 (156) |
174 | EVA | ss5512230688 | Oct 16, 2022 (156) |
175 | EVA | ss5512473357 | Oct 16, 2022 (156) |
176 | 1000G_HIGH_COVERAGE | ss5615492098 | Oct 16, 2022 (156) |
177 | EVA | ss5623981201 | Oct 16, 2022 (156) |
178 | EVA | ss5624114326 | Oct 16, 2022 (156) |
179 | SANFORD_IMAGENETICS | ss5663299565 | Oct 16, 2022 (156) |
180 | TOMMO_GENOMICS | ss5789713346 | Oct 16, 2022 (156) |
181 | EVA | ss5800023052 | Oct 16, 2022 (156) |
182 | EVA | ss5800230090 | Oct 16, 2022 (156) |
183 | YY_MCH | ss5818081971 | Oct 16, 2022 (156) |
184 | EVA | ss5845754119 | Oct 16, 2022 (156) |
185 | EVA | ss5847922570 | Oct 16, 2022 (156) |
186 | EVA | ss5848549755 | Oct 16, 2022 (156) |
187 | EVA | ss5853158724 | Oct 16, 2022 (156) |
188 | EVA | ss5923608651 | Oct 16, 2022 (156) |
189 | EVA | ss5958221948 | Oct 16, 2022 (156) |
190 | 1000Genomes | NC_000020.10 - 44640225 | Oct 12, 2018 (152) |
191 | 1000Genomes_30x | NC_000020.11 - 46011586 | Oct 16, 2022 (156) |
192 | The Avon Longitudinal Study of Parents and Children | NC_000020.10 - 44640225 | Oct 12, 2018 (152) |
193 | Genome-wide autozygosity in Daghestan | NC_000020.9 - 44073632 | Apr 27, 2020 (154) |
194 | Genetic variation in the Estonian population | NC_000020.10 - 44640225 | Oct 12, 2018 (152) |
195 | ExAC | NC_000020.10 - 44640225 | Oct 12, 2018 (152) |
196 | FINRISK | NC_000020.10 - 44640225 | Apr 27, 2020 (154) |
197 | The Danish reference pan genome | NC_000020.10 - 44640225 | Apr 27, 2020 (154) |
198 | gnomAD - Genomes | NC_000020.11 - 46011586 | Apr 26, 2021 (155) |
199 | gnomAD - Exomes | NC_000020.10 - 44640225 | Jul 13, 2019 (153) |
200 | GO Exome Sequencing Project | NC_000020.10 - 44640225 | Oct 12, 2018 (152) |
201 | Genome of the Netherlands Release 5 | NC_000020.10 - 44640225 | Apr 27, 2020 (154) |
202 | HGDP-CEPH-db Supplement 1 | NC_000020.9 - 44073632 | Apr 27, 2020 (154) |
203 | HapMap | NC_000020.11 - 46011586 | Apr 27, 2020 (154) |
204 | KOREAN population from KRGDB | NC_000020.10 - 44640225 | Apr 27, 2020 (154) |
205 | Korean Genome Project | NC_000020.11 - 46011586 | Apr 27, 2020 (154) |
206 | Medical Genome Project healthy controls from Spanish population | NC_000020.10 - 44640225 | Apr 27, 2020 (154) |
207 | Northern Sweden | NC_000020.10 - 44640225 | Jul 13, 2019 (153) |
208 | The PAGE Study | NC_000020.11 - 46011586 | Jul 13, 2019 (153) |
209 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000020.10 - 44640225 | Apr 26, 2021 (155) |
210 | CNV burdens in cranial meningiomas | NC_000020.10 - 44640225 | Apr 26, 2021 (155) |
211 | Qatari | NC_000020.10 - 44640225 | Apr 27, 2020 (154) |
212 | SGDP_PRJ | NC_000020.10 - 44640225 | Apr 27, 2020 (154) |
213 | Siberian | NC_000020.10 - 44640225 | Apr 27, 2020 (154) |
214 | 8.3KJPN | NC_000020.10 - 44640225 | Apr 26, 2021 (155) |
215 | 14KJPN | NC_000020.11 - 46011586 | Oct 16, 2022 (156) |
216 | TopMed | NC_000020.11 - 46011586 | Apr 26, 2021 (155) |
217 | UK 10K study - Twins | NC_000020.10 - 44640225 | Oct 12, 2018 (152) |
218 | ALFA | NC_000020.11 - 46011586 | Apr 26, 2021 (155) |
219 | ClinVar | RCV000299484.5 | Oct 16, 2022 (156) |
220 | ClinVar | RCV001520775.5 | Oct 16, 2022 (156) |
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).
Associated ID | History Updated (Build) |
---|---|
rs2664538 | Mar 10, 2006 (126) |
rs17845069 | Mar 10, 2006 (126) |
rs17857851 | Mar 10, 2006 (126) |
rs52800421 | Sep 21, 2007 (128) |
rs61231474 | May 26, 2008 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
46669236, ss3939491842 | NC_000020.10:44640224:A:C | NC_000020.11:46011585:A:C | (self) |
284329, 346491, ss79766636, ss117558040, ss160448292, ss168197129, ss172116643, ss203900831, ss255667631, ss283394837, ss287463399, ss292660164, ss410914357, ss480255039, ss491263579, ss491810630, ss825473144, ss1397770222, ss1698826114, ss1713697170, ss2094918930, ss2635106186, ss3639177522, ss3639603158, ss3643311118, ss3847668599 | NC_000020.9:44073631:A:G | NC_000020.11:46011585:A:G | (self) |
78418899, 43412177, 30678299, 5577203, 119781, 5687312, 13966771, 1833602, 19337148, 46669236, 658422, 16715302, 1107903, 300193, 20321408, 41210450, 11004091, 87821048, 43412177, ss228373362, ss237846252, ss244014307, ss342523518, ss480265935, ss481009183, ss484925468, ss491178305, ss491561680, ss536974673, ss566275047, ss662156843, ss779058329, ss780755427, ss782909063, ss783433794, ss783872302, ss832163973, ss832833195, ss833424025, ss834521444, ss974509998, ss994765429, ss1067598763, ss1082236035, ss1364949522, ss1429066200, ss1579522373, ss1584123320, ss1638875417, ss1681869450, ss1694020688, ss1711542662, ss1752388737, ss1752388738, ss1809520475, ss1917947958, ss1938279486, ss1946553525, ss1959919371, ss1969141425, ss2029919827, ss2158487737, ss2629453399, ss2633803297, ss2704180506, ss2744644408, ss2750393721, ss2967929896, ss2985216792, ss3018253264, ss3022123736, ss3023072984, ss3352529818, ss3628401829, ss3628401830, ss3631759551, ss3633252422, ss3633966615, ss3634838054, ss3634838055, ss3635651667, ss3636531692, ss3637403756, ss3638348537, ss3640545352, ss3640545353, ss3644783922, ss3646550416, ss3652579726, ss3653985798, ss3684940051, ss3743430437, ss3744494511, ss3745137950, ss3745137951, ss3758697873, ss3772634119, ss3772634120, ss3825376704, ss3825533743, ss3825548048, ss3825954036, ss3835693706, ss3889193470, ss3939491842, ss3984217966, ss3984750621, ss3985881976, ss3986084505, ss3986833277, ss4017850336, ss5229851741, ss5316010518, ss5437694892, ss5512230688, ss5512473357, ss5623981201, ss5624114326, ss5663299565, ss5800023052, ss5800230090, ss5845754119, ss5847922570, ss5848549755, ss5958221948 | NC_000020.10:44640224:A:G | NC_000020.11:46011585:A:G | (self) |
RCV000299484.5, RCV001520775.5, 103018033, 553154956, 2132223, 38748269, 1272712, 123550450, 365293908, 881641894, ss2243128900, ss3028792612, ss3651028181, ss3707033612, ss3725919472, ss3772051243, ss3821858011, ss3982370268, ss5090184963, ss5236983945, ss5237674572, ss5308955033, ss5314455686, ss5501218450, ss5615492098, ss5789713346, ss5818081971, ss5853158724, ss5923608651 | NC_000020.11:46011585:A:G | NC_000020.11:46011585:A:G | (self) |
ss12489923, ss16896405, ss21777374 | NT_011362.8:9693132:A:G | NC_000020.11:46011585:A:G | (self) |
ss76888377 | NT_011362.9:9693132:A:G | NC_000020.11:46011585:A:G | (self) |
ss20187, ss3758674, ss5112470, ss5590719, ss8338714, ss16338512, ss23574543, ss28497454, ss28512153, ss44216184, ss52088133, ss65727100, ss66538981, ss66777030, ss67266343, ss67666311, ss69242597, ss70380798, ss70744753, ss71316282, ss74806581, ss75777896, ss76873855, ss79142626, ss80743717, ss83352063, ss86347706, ss106190863, ss122079894, ss135706352, ss153692501, ss156466362, ss159321161, ss159742491, ss170793341, ss172852844 | NT_011362.10:14836316:A:G | NC_000020.11:46011585:A:G | (self) |
46669236, ss3939491842 | NC_000020.10:44640224:A:T | NC_000020.11:46011585:A:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
15748780 | Genetic association between matrix metalloproteinase MMP-9 and MMP-3 polymorphisms and Japanese sporadic Alzheimer's disease. | Shibata N et al. | 2005 | Neurobiology of aging |
17110919 | The association of single nucleotide polymorphisms in the MMP-9 genes with susceptibility to acute primary angle closure glaucoma in Taiwanese patients. | Wang IJ et al. | 2006 | Molecular vision |
17346338 | Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma. | Cotignola J et al. | 2007 | BMC medical genetics |
18191955 | Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. | Zhu Y et al. | 2008 | Mutation research |
18303200 | Matrix metalloproteinase-3 genotypes influence recovery from hepatitis B virus infection. | Cheong JY et al. | 2008 | Journal of Korean medical science |
18455130 | A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniation. | Hirose Y et al. | 2008 | American journal of human 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 |
18552608 | Lack of association between the rs2664538 polymorphism in the MMP-9 gene and primary angle closure glaucoma in Singaporean subjects. | Aung T et al. | 2008 | Journal of glaucoma |
18636124 | Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. | Skibola CF et al. | 2008 | PloS one |
18781223 | The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study. | Wang IJ et al. | 2008 | Molecular vision |
19064570 | Missense polymorphisms in matrix metalloproteinase genes and skin cancer risk. | Nan H et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
19357773 | Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians. | Ahluwalia TS et al. | 2009 | PloS one |
19633731 | Association of the single nucleotide polymorphisms in the extracellular matrix metalloprotease-9 gene with PACG in southern China. | Cong Y et al. | 2009 | Molecular vision |
19657367 | Genetic polymorphisms of EPHX1, Gsk3beta, TNFSF8 and myeloma cell DKK-1 expression linked to bone disease in myeloma. | Durie BG et al. | 2009 | Leukemia |
19898635 | Investigation of the association between CALCRL polymorphisms and primary angle closure glaucoma. | Cao D et al. | 2009 | Molecular vision |
19906411 | Polymorphisms in MMP9 and SIPA1 are associated with increased risk of nodal metastases in early-stage cervical cancer. | Brooks R et al. | 2010 | Gynecologic oncology |
19910030 | Evaluation of candidate genes in a genome-wide association study of childhood asthma in Mexicans. | Wu H et al. | 2010 | The Journal of allergy and clinical immunology |
20064641 | MMP2 genetic variation is associated with measures of fibrous cap thickness: The Atherosclerosis Risk in Communities Carotid MRI Study. | Volcik KA et al. | 2010 | Atherosclerosis |
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 |
20181264 | MMP-9 gene variants increase the risk for non-atopic asthma in children. | Pinto LA et al. | 2010 | Respiratory research |
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 |
20808730 | Role of functional single nucleotide polymorphisms of MMP1, MMP2, and MMP9 in open angle glaucomas. | Mossböck G et al. | 2010 | Molecular vision |
21048031 | Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. | Casabonne D et al. | 2011 | Haematologica |
21085059 | Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. | Israni A et al. | 2010 | Transplantation |
21150032 | Complex genetic mechanisms in glaucoma: an overview. | Rao KN et al. | 2011 | Indian journal of ophthalmology |
21621256 | Cosmopolitan and ethnic-specific replication of genetic risk factors for asthma in 2 Latino populations. | Galanter JM et al. | 2011 | The Journal of allergy and clinical immunology |
21655354 | Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population. | Awadalla MS et al. | 2011 | Molecular vision |
21844877 | Matrix metalloproteinase-9 genetic variations affect MMP-9 levels in obese children. | Belo VA et al. | 2012 | International journal of obesity (2005) |
21887284 | Pharmacogenetic associations of MMP9 and MMP12 variants with cardiovascular disease in patients with hypertension. | Tanner RM et al. | 2011 | PloS one |
21897747 | The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population. | Awadalla MS et al. | 2011 | Molecular vision |
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 |
22107760 | Genetic susceptibility of intervertebral disc degeneration among young Finnish adults. | Kelempisioti A et al. | 2011 | BMC medical genetics |
22113040 | [Study on association between single nucleotide polymorphisms of MMP7, MMP8, MMP9 genes and development of gastric cancer and lymph node metastasis]. | Kim JH et al. | 2011 | The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi |
22664146 | Association of matrix metalloproteinases (MMP2, MMP7 and MMP9) genetic variants with left ventricular dysfunction in coronary artery disease patients. | Mishra A et al. | 2012 | Clinica chimica acta; international journal of clinical chemistry |
22710194 | MMP13 polymorphism decreases risk for dental caries. | Tannure PN et al. | 2012 | Caries research |
22879966 | Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. | Verschuren JJ et al. | 2012 | PloS one |
22938532 | Sequencing and analysis of a South Asian-Indian personal genome. | Gupta R et al. | 2012 | BMC genomics |
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 |
23185509 | Genetic association studies in lumbar disc degeneration: a systematic review. | Eskola PJ et al. | 2012 | PloS one |
23205182 | A genome-wide association study of variations in maternal cardiometabolic genes and risk of placental abruption. | Moore A et al. | 2012 | International journal of molecular epidemiology and genetics |
23467666 | Genetic Variants in MMP9 and TCF2 Contribute to Susceptibility to Lung Cancer. | Sun JZ et al. | 2011 | Chinese journal of cancer research = Chung-kuo yen cheng yen chiu |
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 |
23820649 | Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. | Cooper DN et al. | 2013 | Human genetics |
23955812 | Functional polymorphisms of matrix metalloproteinase-9 and survival in patients with locoregionally advanced nasopharyngeal carcinoma treated with chemoradiotherapy. | Liu H et al. | 2013 | Medical oncology (Northwood, London, England) |
24118356 | Association of MMP but not TIMP-1 gene polymorphisms with recurrent aphthous stomatitis. | Karasneh JA et al. | 2014 | Oral diseases |
24627221 | Single nucleotide polymorphism-specific regulation of matrix metalloproteinase-9 by multiple miRNAs targeting the coding exon. | Duellman T et al. | 2014 | Nucleic acids research |
24967180 | The association between matrix metalloprotease-9 gene polymorphisms and primary angle-closure glaucoma in a Chinese Han population. | Gao XJ et al. | 2014 | International journal of ophthalmology |
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 |
25162123 | MMP9 gene polymorphism is not associated with polypoidal choroidal vasculopathy and neovascular age-related macular degeneration in a Chinese Han population. | Zeng R et al. | 2014 | Ophthalmic genetics |
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 |
25890491 | Association between four MMP-9 polymorphisms and breast cancer risk: a meta-analysis. | Zhang X et al. | 2015 | Medical science monitor |
26844501 | Associations of Matrix Metalloproteinase-9 and Tissue Inhibitory Factor-1 Polymorphisms With Parkinson Disease in Taiwan. | Chen YC et al. | 2016 | Medicine |
26872021 | Association of MMP-9 Gene Polymorphisms with Glaucoma: A Meta-Analysis. | Zhang Y et al. | 2016 | Ophthalmic research |
27053167 | Matrix metalloproteinase 9 gene polymorphisms are associated with a multiple family history of gastric cancer. | Okada R et al. | 2017 | Gastric cancer |
27146834 | Plasma matrix metalloproteinase-9 levels, MMP-9 gene haplotypes, and cardiovascular risk in obese subjects. | Luizon MR et al. | 2016 | Molecular biology reports |
27272641 | Association of Matrix Metalloproteinase-9 (MMP9) Variants with Primary Angle Closure and Primary Angle Closure Glaucoma. | Chen X et al. | 2016 | PloS one |
27401679 | MMP2, MMP9 and TIMP2 polymorphisms affect sperm parameters but not fertility in Polish males. | Kurzawski M et al. | 2017 | Andrologia |
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 |
27824919 | Primary Angle Closure and Sequence Variants within MicroRNA Binding Sites of Genes Involved in Eye Development. | Shi H et al. | 2016 | PloS one |
27894112 | Association of MBL2 Gene Polymorphism with Dental Caries in Saudi Children. | Alyousef YM et al. | 2017 | Caries research |
28179203 | Involvement of matrix metalloproteinases in chronic Q fever. | Jansen AFM et al. | 2017 | Clinical microbiology and infection |
28197741 | Correlation between the COL4A3, MMP-9, and TIMP-1 polymorphisms and risk of keratoconus. | Saravani R et al. | 2017 | Japanese journal of ophthalmology |
28388268 | Matrix Metalloproteinase-9 rs17576 Gene Polymorphism and Behçet's Disease: Is There an Association? | Kamal A et al. | 2017 | Immunological investigations |
28431514 | Associations between matrix metalloproteinase gene polymorphisms and glaucoma susceptibility: a meta-analysis. | Wu MY et al. | 2017 | BMC ophthalmology |
28451395 | Association of COL4A3 (rs55703767), MMP-9 (rs17576)and TIMP-1 (rs6609533) gene polymorphisms with susceptibility to type 2 diabetes. | Saravani S et al. | 2017 | Biomedical reports |
28471875 | Genetic predictors of recovery in low back and lumbar radicular pain. | Bjorland S et al. | 2017 | Pain |
28521653 | Matrix metalloproteinase-3 gene polymorphism (rs3025058) affects markers atherosclerosis in type 2 diabetes mellitus. | Pleskovič A et al. | 2017 | VASA. Zeitschrift fur Gefasskrankheiten |
28551829 | Meta-analysis of the effects of genetic polymorphisms on intervertebral disc degeneration. | Rigal J et al. | 2017 | European spine journal |
29138529 | Matrix Metalloproteinases Polymorphisms as Prognostic Biomarkers in Malignant Pleural Mesothelioma. | Štrbac D et al. | 2017 | Disease markers |
29168291 | The COL5A3 and MMP9 genes interact in eczema susceptibility. | Margaritte-Jeannin P et al. | 2018 | Clinical and experimental allergy |
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 |
29297546 | Genetic Polymorphism in MMP9 May Be Associated With Anterior Open Bite in Children. | Küchler EC et al. | 2017 | Brazilian dental journal |
29496490 | A matrix metalloproteinase 9 (MMP9) gene single nucleotide polymorphism is associated with predisposition to tick-borne encephalitis virus-induced severe central nervous system disease. | Barkhash AV et al. | 2018 | Ticks and tick-borne diseases |
29739074 | Association of Polymorphism rs17576 of the Metalloproteinase 9 Gene with Gestational Diabetes in Euro-Brazilian Pregnant Women. | Costa CD et al. | 2018 | Clinical laboratory |
29744169 | Inflammatory mediator polymorphisms associate with initial periodontitis in adolescents. | Heikkinen AM et al. | 2016 | Clinical and experimental dental research |
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.) |
29782266 | [The Association of Gene Polymorphisms of Matrix Metalloproteinases (-9, -12 and -20) and Collagen Type I Degradation Products With the Remodeling of the Left Ventricle in Patients With Acute Myocardial Infarction]. | Sokolova NA et al. | 2018 | Kardiologiia |
29794283 | The MMP9 rs17576 A>G polymorphism is associated with increased lumbopelvic pain-intensity in pregnant women. | Mahmood AK et al. | 2018 | Scandinavian journal of pain |
30018519 | Matrix Metalloproteinases Polymorphisms as Baseline Risk Predictors in Malignant Pleural Mesothelioma. | Strbac D et al. | 2018 | Radiology and oncology |
30182779 | Genetic susceptibility to cerebrovascular disease: A systematic review. | Griessenauer CJ et al. | 2018 | Journal of cerebral blood flow and metabolism |
30249503 | Polymorphism of MMP-9 gene is not associated with the risk of urinary cancers: Evidence from an updated meta-analysis. | Meng J et al. | 2018 | Pathology, research and practice |
30289281 | Evaluation of Common Variants in Matrix Metalloproteinase-9 Gene with Lumbar Disc Herniation in Han Chinese Population. | Jing R et al. | 2018 | Genetic testing and molecular biomarkers |
30464622 | Association between matrix-metalloproteinase polymorphisms and prostate cancer risk: a meta-analysis and systematic review. | Zhou H et al. | 2018 | Cancer management and research |
30557881 | Cubilin Single Nucleotide Polymorphism Variants are Associated with Macroangiopathy While a Matrix Metalloproteinase-9 Single Nucleotide Polymorphism Flip-Flop may Indicate Susceptibility of Diabetic Nephropathy in Type-2 Diabetic Patients. | Albert C et al. | 2019 | Nephron |
30639979 | Evaluation of genetic polymorphisms in MMP2, MMP9 and MMP20 in Brazilian children with dental fluorosis. | Romualdo PC et al. | 2019 | Environmental toxicology and pharmacology |
30667085 | Genetic variants involved in extracellular matrix homeostasis play a role in the susceptibility to frozen shoulder: A case-control study. | Cohen C et al. | 2019 | Journal of orthopaedic research |
30791043 | The relationship between MMP9 and ADRA2A gene polymorphisms and mothers-newborns' nutritional status: an exploratory path model (STROBE compliant article). | Mărginean CO et al. | 2019 | Pediatric research |
30922233 | The interaction effects between TLR4 and MMP9 gene polymorphisms contribute to aortic aneurysm risk in a Chinese Han population. | Li T et al. | 2019 | BMC cardiovascular disorders |
30931075 | Association of Matrix Metalloproteinase 9 (MMP-9) Polymorphisms with Asthma Risk: A Meta-Analysis. | Zou F et al. | 2019 | Canadian respiratory journal |
31056794 | Matrix metalloproteinases as target genes for gene regulatory networks driving molecular and cellular pathways related to a multistep pathogenesis of cerebrovascular disease. | Polonikov A et al. | 2019 | Journal of cellular biochemistry |
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 |
31191742 | Evaluation of Matrix Metalloproteinase 9 Serum Concentration as a Biomarker in Malignant Mesothelioma. | Štrbac D et al. | 2019 | Disease markers |
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 |
31397194 | Role of extracellular matrix remodelling gene SNPs in keratoconus. | Abdullah OA et al. | 2020 | British journal of biomedical science |
31444797 | Rotator Cuff Tear Susceptibility Is Associated With Variants in Genes Involved in Tendon Extracellular Matrix Homeostasis. | Figueiredo EA et al. | 2020 | Journal of orthopaedic research |
31455415 | Persistent lumbar radicular and low back pain; impact of genetic variability versus emotional distress. | Bjorland S et al. | 2019 | BMC research notes |
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 |
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 |
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 |
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 |
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 |
33146350 | Association between matrix metalloproteinase-9 gene polymorphism and breast cancer in Brazilian women. | Oliveira VA et al. | 2020 | Clinics (Sao Paulo, Brazil) |
33296906 | MMP9 rs17576 Is Simultaneously Correlated with Symptomatic Intracranial Atherosclerotic Stenosis and White Matter Hyperintensities in Chinese Population. | Feng X et al. | 2021 | Cerebrovascular diseases (Basel, Switzerland) |
33396423 | Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations. | Zukerman R et al. | 2020 | Genes |
33788099 | Peculiarities of Immune Regulation in Men of Perm Region with Atherosclerosis Related to Polymorphism of Candidate Genes. | Nikonoshina NA et al. | 2021 | Bulletin of experimental biology and medicine |
33893823 | Systematic review and meta-analysis of genetic association studies of pelvic organ prolapse. | Allen-Brady K et al. | 2022 | International urogynecology journal |
34188075 | Functionally significant polymorphisms of the MMP-9 gene are associated with peptic ulcer disease in the Caucasian population of Central Russia. | Minyaylo O et al. | 2021 | Scientific reports |
34492072 | Association of the functionally significant polymorphisms of the MMP9 gene with H. pylori-positive gastric ulcer in the Caucasian population of Central Russia. | Dvornyk V et al. | 2021 | PloS one |
34953598 | Correlation of TP53 (rs1625895), TP73 (rs3765730), MMP9 (rs17576), and MTHFR (rs868014) polymorphisms with low ovarian reserve. | Vagnini LD et al. | 2022 | European journal of obstetrics, gynecology, and reproductive biology |
34984852 | MMP9 SNP and MMP SNP-SNP interactions increase the risk for ischemic stroke in the Han Hakka population. | Fan D et al. | 2022 | Brain and behavior |
35156865 | Estimation of associations between MMP9 gene polymorphisms and breast cancer: Evidence from a meta-analysis. | Yan C et al. | 2022 | The International journal of biological markers |
35254145 | Functionally significant polymorphisms of the MMP9 gene are associated with primary open-angle glaucoma in the population of Russia. | Ponomarenko I et al. | 2022 | European journal of ophthalmology |
35313259 | Role of genetic polymorphisms in recurrent aphthous stomatitis: A systematic review and meta-analysis. | Yousefi H et al. | 2022 | Cytokine |
35406617 | Germline Variants in Angiogenesis-Related Genes Contribute to Clinical Outcome in Head and Neck Squamous Cell Carcinoma. | Butkiewicz D et al. | 2022 | Cancers |
35566612 | Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand? | Belamkar A et al. | 2022 | Journal of clinical medicine |
35776084 | The risk of relapse in breast cancer patients is associated with MMP-9 gene polymorphism: a prospective study in a sample of the Iranian population. | Kohan L et al. | 2022 | Nucleosides, nucleotides & nucleic acids |
35885543 | Effects of TIMP1 rs4898 Gene Polymorphism on Early-Onset Preeclampsia Development and Placenta Weight. | Mrozikiewicz AE et al. | 2022 | Diagnostics (Basel, Switzerland) |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.
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.