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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.

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)
G=0.359122 (50099/139504, GnomAD)
G=0.392022 (47546/121284, ExAC)
G=0.37681 (29558/78442, PAGE_STUDY)
A=0.35389 (9998/28252, 14KJPN)
A=0.35563 (5959/16756, 8.3KJPN)
G=0.34784 (4524/13006, GO-ESP)
G=0.4414 (2827/6404, 1000G_30x)
G=0.4555 (2281/5008, 1000G)
G=0.4263 (1910/4480, Estonian)
G=0.3583 (1381/3854, ALSPAC)
G=0.3552 (1317/3708, TWINSUK)
A=0.3150 (923/2930, KOREAN)
G=0.4155 (866/2084, HGDP_Stanford)
G=0.4683 (886/1892, HapMap)
A=0.3291 (603/1832, Korea1K)
G=0.3987 (445/1116, Daghestan)
G=0.363 (362/998, GoNL)
A=0.310 (238/768, PRJEB37584)
G=0.390 (234/600, NorthernSweden)
G=0.313 (167/534, MGP)
A=0.311 (105/338, SGDP_PRJ)
G=0.375 (114/304, FINRISK)
G=0.394 (85/216, Qatari)
G=0.25 (22/88, Ancient Sardinia)
G=0.42 (17/40, GENOME_DK)
A=0.42 (15/36, Siberian)
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.

Release Version: 20230706150541
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


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
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
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.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
Gene: MMP9, matrix metallopeptidase 9 (plus strand)
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
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.

Allele: G (allele ID: 335587 )
ClinVar Accession Disease Names Clinical Significance
RCV000299484.5 Metaphyseal anadysplasia 2 Benign
RCV001520775.5 not provided Benign
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 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
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#.

189 SubSNP, 29 Frequency, 2 ClinVar submissions
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)
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).

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)
Added to this RefSNP Cluster:
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)
Help

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

119 citations for rs17576
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)
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.post761+d5e8e07