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.
rs11536889
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr9:117715853 (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
- G>A / G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.107779 (28528/264690, TOPMED)C=0.105651 (14804/140122, GnomAD)C=0.10305 (8109/78692, PAGE_STUDY) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- TLR4 : 3 Prime UTR Variant
- Publications
- 95 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 | 20058 | G=0.87960 | A=0.00000, C=0.12040 |
European | Sub | 15394 | G=0.86300 | A=0.00000, C=0.13700 |
African | Sub | 2942 | G=0.9714 | A=0.0000, C=0.0286 |
African Others | Sub | 114 | G=1.000 | A=0.000, C=0.000 |
African American | Sub | 2828 | G=0.9703 | A=0.0000, C=0.0297 |
Asian | Sub | 114 | G=0.781 | A=0.000, C=0.219 |
East Asian | Sub | 88 | G=0.78 | A=0.00, C=0.22 |
Other Asian | Sub | 26 | G=0.77 | A=0.00, C=0.23 |
Latin American 1 | Sub | 150 | G=0.873 | A=0.000, C=0.127 |
Latin American 2 | Sub | 626 | G=0.888 | A=0.000, C=0.112 |
South Asian | Sub | 98 | G=0.82 | A=0.00, C=0.18 |
Other | Sub | 734 | G=0.877 | A=0.000, C=0.123 |
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 |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 | G=0.892221 | C=0.107779 |
gnomAD - Genomes | Global | Study-wide | 140122 | G=0.894349 | C=0.105651 |
gnomAD - Genomes | European | Sub | 75888 | G=0.86206 | C=0.13794 |
gnomAD - Genomes | African | Sub | 42002 | G=0.96922 | C=0.03078 |
gnomAD - Genomes | American | Sub | 13638 | G=0.87828 | C=0.12172 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.8871 | C=0.1129 |
gnomAD - Genomes | East Asian | Sub | 3124 | G=0.7513 | C=0.2487 |
gnomAD - Genomes | Other | Sub | 2148 | G=0.8925 | C=0.1075 |
The PAGE Study | Global | Study-wide | 78692 | G=0.89695 | C=0.10305 |
The PAGE Study | AfricanAmerican | Sub | 32514 | G=0.96685 | C=0.03315 |
The PAGE Study | Mexican | Sub | 10806 | G=0.89358 | C=0.10642 |
The PAGE Study | Asian | Sub | 8316 | G=0.7317 | C=0.2683 |
The PAGE Study | PuertoRican | Sub | 7918 | G=0.8808 | C=0.1192 |
The PAGE Study | NativeHawaiian | Sub | 4532 | G=0.7769 | C=0.2231 |
The PAGE Study | Cuban | Sub | 4230 | G=0.8648 | C=0.1352 |
The PAGE Study | Dominican | Sub | 3828 | G=0.9138 | C=0.0862 |
The PAGE Study | CentralAmerican | Sub | 2450 | G=0.8927 | C=0.1073 |
The PAGE Study | SouthAmerican | Sub | 1982 | G=0.8713 | C=0.1287 |
The PAGE Study | NativeAmerican | Sub | 1260 | G=0.8960 | C=0.1040 |
The PAGE Study | SouthAsian | Sub | 856 | G=0.832 | C=0.168 |
14KJPN | JAPANESE | Study-wide | 28258 | G=0.73799 | C=0.26201 |
Allele Frequency Aggregator | Total | Global | 20058 | G=0.87960 | A=0.00000, C=0.12040 |
Allele Frequency Aggregator | European | Sub | 15394 | G=0.86300 | A=0.00000, C=0.13700 |
Allele Frequency Aggregator | African | Sub | 2942 | G=0.9714 | A=0.0000, C=0.0286 |
Allele Frequency Aggregator | Other | Sub | 734 | G=0.877 | A=0.000, C=0.123 |
Allele Frequency Aggregator | Latin American 2 | Sub | 626 | G=0.888 | A=0.000, C=0.112 |
Allele Frequency Aggregator | Latin American 1 | Sub | 150 | G=0.873 | A=0.000, C=0.127 |
Allele Frequency Aggregator | Asian | Sub | 114 | G=0.781 | A=0.000, C=0.219 |
Allele Frequency Aggregator | South Asian | Sub | 98 | G=0.82 | A=0.00, C=0.18 |
8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.73646 | C=0.26354 |
1000Genomes_30x | Global | Study-wide | 6404 | G=0.8677 | C=0.1323 |
1000Genomes_30x | African | Sub | 1786 | G=0.9916 | C=0.0084 |
1000Genomes_30x | Europe | Sub | 1266 | G=0.8420 | C=0.1580 |
1000Genomes_30x | South Asian | Sub | 1202 | G=0.8236 | C=0.1764 |
1000Genomes_30x | East Asian | Sub | 1170 | G=0.7402 | C=0.2598 |
1000Genomes_30x | American | Sub | 980 | G=0.882 | C=0.118 |
1000Genomes | Global | Study-wide | 5008 | G=0.8622 | C=0.1378 |
1000Genomes | African | Sub | 1322 | G=0.9902 | C=0.0098 |
1000Genomes | East Asian | Sub | 1008 | G=0.7381 | C=0.2619 |
1000Genomes | Europe | Sub | 1006 | G=0.8419 | C=0.1581 |
1000Genomes | South Asian | Sub | 978 | G=0.823 | C=0.177 |
1000Genomes | American | Sub | 694 | G=0.883 | C=0.117 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.8902 | C=0.1098 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.8581 | C=0.1419 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.8471 | C=0.1529 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.7741 | C=0.2259 |
Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.7702 | C=0.2298 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.848 | C=0.152 |
CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.777 | C=0.223 |
CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.777 | C=0.223 |
Northern Sweden | ACPOP | Study-wide | 600 | G=0.930 | C=0.070 |
HapMap | Global | Study-wide | 324 | G=0.889 | C=0.111 |
HapMap | African | Sub | 120 | G=1.000 | C=0.000 |
HapMap | American | Sub | 120 | G=0.875 | C=0.125 |
HapMap | Asian | Sub | 84 | G=0.75 | C=0.25 |
Qatari | Global | Study-wide | 216 | G=0.940 | C=0.060 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | G=0.738 | C=0.262 |
SGDP_PRJ | Global | Study-wide | 162 | G=0.414 | C=0.586 |
The Danish reference pan genome | Danish | Study-wide | 40 | G=0.90 | C=0.10 |
Siberian | Global | Study-wide | 12 | G=0.50 | C=0.50 |
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 9 | NC_000009.12:g.117715853G>A |
GRCh38.p14 chr 9 | NC_000009.12:g.117715853G>C |
GRCh37.p13 chr 9 | NC_000009.11:g.120478131G>A |
GRCh37.p13 chr 9 | NC_000009.11:g.120478131G>C |
TLR4 RefSeqGene (LRG_320) | NG_011475.2:g.16451G>A |
TLR4 RefSeqGene (LRG_320) | NG_011475.2:g.16451G>C |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
TLR4 transcript variant 1 | NM_138554.5:c.*1205= | N/A | 3 Prime UTR Variant |
TLR4 transcript variant 4 | NM_138557.3:c.*1205= | N/A | 3 Prime UTR Variant |
TLR4 transcript variant 3 | NM_003266.4:c.*1205= | N/A | 3 Prime UTR 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.
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 | G= | A | C |
---|---|---|---|
GRCh38.p14 chr 9 | NC_000009.12:g.117715853= | NC_000009.12:g.117715853G>A | NC_000009.12:g.117715853G>C |
GRCh37.p13 chr 9 | NC_000009.11:g.120478131= | NC_000009.11:g.120478131G>A | NC_000009.11:g.120478131G>C |
TLR4 RefSeqGene (LRG_320) | NG_011475.2:g.16451= | NG_011475.2:g.16451G>A | NG_011475.2:g.16451G>C |
TLR4 transcript variant 1 | NM_138554.5:c.*1205= | NM_138554.5:c.*1205G>A | NM_138554.5:c.*1205G>C |
TLR4 transcript variant 1 | NM_138554.4:c.*1205= | NM_138554.4:c.*1205G>A | NM_138554.4:c.*1205G>C |
TLR4 transcript variant 3 | NM_003266.4:c.*1205= | NM_003266.4:c.*1205G>A | NM_003266.4:c.*1205G>C |
TLR4 transcript variant 3 | NM_003266.3:c.*1205= | NM_003266.3:c.*1205G>A | NM_003266.3:c.*1205G>C |
TLR4 transcript variant 4 | NM_138557.3:c.*1205= | NM_138557.3:c.*1205G>A | NM_138557.3:c.*1205G>C |
TLR4 transcript variant 4 | NM_138557.2:c.*1205= | NM_138557.2:c.*1205G>A | NM_138557.2:c.*1205G>C |
TLR4 transcript variant 3 | NR_024168.1:n.4136= | NR_024168.1:n.4136G>A | NR_024168.1:n.4136G>C |
TLR4 transcript variant 4 | NR_024169.1:n.3849= | NR_024169.1:n.3849G>A | NR_024169.1:n.3849G>C |
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 | IIPGA-WEISS-MARTINEZ | ss16214299 | Feb 28, 2004 (120) |
2 | PERLEGEN | ss24078772 | Sep 20, 2004 (123) |
3 | SI_EXO | ss52069046 | Oct 14, 2006 (127) |
4 | SHGC | ss68074536 | Nov 29, 2006 (127) |
5 | CSHL-HAPMAP | ss68386769 | Jan 12, 2007 (127) |
6 | HGSV | ss83786113 | Dec 14, 2007 (130) |
7 | SNP500CANCER | ss105440368 | Feb 04, 2009 (130) |
8 | 1000GENOMES | ss109042814 | Jan 23, 2009 (130) |
9 | GMI | ss157931067 | Dec 01, 2009 (131) |
10 | ILLUMINA | ss159979633 | Dec 01, 2009 (131) |
11 | 1000GENOMES | ss234957255 | Jul 15, 2010 (132) |
12 | 1000GENOMES | ss241707157 | Jul 15, 2010 (132) |
13 | ILLUMINA | ss244272599 | Jul 04, 2010 (132) |
14 | GMI | ss280386440 | May 04, 2012 (137) |
15 | ILLUMINA | ss479984340 | Sep 08, 2015 (146) |
16 | ILLUMINA | ss483392856 | May 04, 2012 (137) |
17 | ILLUMINA | ss485719674 | May 04, 2012 (137) |
18 | GSK-GENETICS | ss491280286 | May 04, 2012 (137) |
19 | SSMP | ss656106593 | Apr 25, 2013 (138) |
20 | ILLUMINA | ss780260321 | Sep 08, 2015 (146) |
21 | ILLUMINA | ss782139602 | Sep 08, 2015 (146) |
22 | ILLUMINA | ss835746171 | Sep 08, 2015 (146) |
23 | EVA-GONL | ss986940033 | Aug 21, 2014 (142) |
24 | JMKIDD_LAB | ss1076579877 | Aug 21, 2014 (142) |
25 | 1000GENOMES | ss1335293990 | Aug 21, 2014 (142) |
26 | DDI | ss1431950366 | Apr 01, 2015 (144) |
27 | EVA_GENOME_DK | ss1583244787 | Apr 01, 2015 (144) |
28 | EVA_DECODE | ss1596579839 | Apr 01, 2015 (144) |
29 | EVA_UK10K_ALSPAC | ss1623478296 | Apr 01, 2015 (144) |
30 | EVA_UK10K_TWINSUK | ss1666472329 | Apr 01, 2015 (144) |
31 | WEILL_CORNELL_DGM | ss1930252982 | Feb 12, 2016 (147) |
32 | ILLUMINA | ss1959212185 | Feb 12, 2016 (147) |
33 | JJLAB | ss2025849670 | Sep 14, 2016 (149) |
34 | ILLUMINA | ss2094836283 | Dec 20, 2016 (150) |
35 | USC_VALOUEV | ss2154078981 | Dec 20, 2016 (150) |
36 | HUMAN_LONGEVITY | ss2314089943 | Dec 20, 2016 (150) |
37 | SYSTEMSBIOZJU | ss2627392284 | Nov 08, 2017 (151) |
38 | ILLUMINA | ss2634912524 | Nov 08, 2017 (151) |
39 | GRF | ss2709960027 | Nov 08, 2017 (151) |
40 | ILLUMINA | ss2711172244 | Nov 08, 2017 (151) |
41 | GNOMAD | ss2882742345 | Nov 08, 2017 (151) |
42 | SWEGEN | ss3005526202 | Nov 08, 2017 (151) |
43 | ILLUMINA | ss3022960986 | Nov 08, 2017 (151) |
44 | BIOINF_KMB_FNS_UNIBA | ss3026707907 | Nov 08, 2017 (151) |
45 | CSHL | ss3348841662 | Nov 08, 2017 (151) |
46 | ILLUMINA | ss3632802149 | Oct 12, 2018 (152) |
47 | ILLUMINA | ss3636979336 | Oct 12, 2018 (152) |
48 | ILLUMINA | ss3642709731 | Oct 12, 2018 (152) |
49 | ILLUMINA | ss3653515782 | Oct 12, 2018 (152) |
50 | EGCUT_WGS | ss3673066875 | Jul 13, 2019 (153) |
51 | EVA_DECODE | ss3724671785 | Jul 13, 2019 (153) |
52 | ILLUMINA | ss3726640164 | Jul 13, 2019 (153) |
53 | ACPOP | ss3736843697 | Jul 13, 2019 (153) |
54 | EVA | ss3769641948 | Jul 13, 2019 (153) |
55 | PAGE_CC | ss3771522665 | Jul 13, 2019 (153) |
56 | PACBIO | ss3786512311 | Jul 13, 2019 (153) |
57 | PACBIO | ss3791713346 | Jul 13, 2019 (153) |
58 | PACBIO | ss3796594855 | Jul 13, 2019 (153) |
59 | KHV_HUMAN_GENOMES | ss3812807205 | Jul 13, 2019 (153) |
60 | EVA | ss3825761620 | Apr 26, 2020 (154) |
61 | EVA | ss3831841007 | Apr 26, 2020 (154) |
62 | EVA | ss3839449852 | Apr 26, 2020 (154) |
63 | EVA | ss3844914454 | Apr 26, 2020 (154) |
64 | SGDP_PRJ | ss3872987282 | Apr 26, 2020 (154) |
65 | KRGDB | ss3920852239 | Apr 26, 2020 (154) |
66 | KOGIC | ss3966661879 | Apr 26, 2020 (154) |
67 | FSA-LAB | ss3984427674 | Apr 26, 2021 (155) |
68 | EVA | ss3984625477 | Apr 26, 2021 (155) |
69 | TOPMED | ss4834198478 | Apr 26, 2021 (155) |
70 | TOMMO_GENOMICS | ss5195109113 | Apr 26, 2021 (155) |
71 | 1000G_HIGH_COVERAGE | ss5282037271 | Oct 16, 2022 (156) |
72 | EVA | ss5315430653 | Oct 16, 2022 (156) |
73 | EVA | ss5389988954 | Oct 16, 2022 (156) |
74 | HUGCELL_USP | ss5477920236 | Oct 16, 2022 (156) |
75 | 1000G_HIGH_COVERAGE | ss5575023734 | Oct 16, 2022 (156) |
76 | SANFORD_IMAGENETICS | ss5648186886 | Oct 16, 2022 (156) |
77 | TOMMO_GENOMICS | ss5739581875 | Oct 16, 2022 (156) |
78 | YY_MCH | ss5810971453 | Oct 16, 2022 (156) |
79 | EVA | ss5829694576 | Oct 16, 2022 (156) |
80 | EVA | ss5856920219 | Oct 16, 2022 (156) |
81 | EVA | ss5917861985 | Oct 16, 2022 (156) |
82 | EVA | ss5977392902 | Oct 16, 2022 (156) |
83 | 1000Genomes | NC_000009.11 - 120478131 | Oct 12, 2018 (152) |
84 | 1000Genomes_30x | NC_000009.12 - 117715853 | Oct 16, 2022 (156) |
85 | The Avon Longitudinal Study of Parents and Children | NC_000009.11 - 120478131 | Oct 12, 2018 (152) |
86 | Genetic variation in the Estonian population | NC_000009.11 - 120478131 | Oct 12, 2018 (152) |
87 | The Danish reference pan genome | NC_000009.11 - 120478131 | Apr 26, 2020 (154) |
88 | gnomAD - Genomes | NC_000009.12 - 117715853 | Apr 26, 2021 (155) |
89 | Genome of the Netherlands Release 5 | NC_000009.11 - 120478131 | Apr 26, 2020 (154) |
90 | HapMap | NC_000009.12 - 117715853 | Apr 26, 2020 (154) |
91 | KOREAN population from KRGDB | NC_000009.11 - 120478131 | Apr 26, 2020 (154) |
92 | Korean Genome Project | NC_000009.12 - 117715853 | Apr 26, 2020 (154) |
93 | Northern Sweden | NC_000009.11 - 120478131 | Jul 13, 2019 (153) |
94 | The PAGE Study | NC_000009.12 - 117715853 | Jul 13, 2019 (153) |
95 | CNV burdens in cranial meningiomas | NC_000009.11 - 120478131 | Apr 26, 2021 (155) |
96 | Qatari | NC_000009.11 - 120478131 | Apr 26, 2020 (154) |
97 | SGDP_PRJ | NC_000009.11 - 120478131 | Apr 26, 2020 (154) |
98 | Siberian | NC_000009.11 - 120478131 | Apr 26, 2020 (154) |
99 | 8.3KJPN | NC_000009.11 - 120478131 | Apr 26, 2021 (155) |
100 | 14KJPN | NC_000009.12 - 117715853 | Oct 16, 2022 (156) |
101 | TopMed | NC_000009.12 - 117715853 | Apr 26, 2021 (155) |
102 | UK 10K study - Twins | NC_000009.11 - 120478131 | Oct 12, 2018 (152) |
103 | A Vietnamese Genetic Variation Database | NC_000009.11 - 120478131 | Jul 13, 2019 (153) |
104 | ALFA | NC_000009.12 - 117715853 | Apr 26, 2021 (155) |
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) |
---|---|
rs57710473 | May 24, 2008 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
10049699628 | NC_000009.12:117715852:G:A | NC_000009.12:117715852:G:A | (self) |
ss83786113 | NC_000009.9:117557684:G:C | NC_000009.12:117715852:G:C | (self) |
ss109042814, ss280386440, ss485719674, ss491280286, ss1596579839 | NC_000009.10:119517951:G:C | NC_000009.12:117715852:G:C | (self) |
47606398, 26455469, 18805123, 9409724, 11806826, 28029633, 10128562, 174928, 12294912, 25004262, 6595335, 53078420, 26455469, 5878303, ss234957255, ss241707157, ss479984340, ss483392856, ss656106593, ss780260321, ss782139602, ss835746171, ss986940033, ss1076579877, ss1335293990, ss1431950366, ss1583244787, ss1623478296, ss1666472329, ss1930252982, ss1959212185, ss2025849670, ss2094836283, ss2154078981, ss2627392284, ss2634912524, ss2709960027, ss2711172244, ss2882742345, ss3005526202, ss3022960986, ss3348841662, ss3632802149, ss3636979336, ss3642709731, ss3653515782, ss3673066875, ss3736843697, ss3769641948, ss3786512311, ss3791713346, ss3796594855, ss3825761620, ss3831841007, ss3839449852, ss3872987282, ss3920852239, ss3984427674, ss3984625477, ss5195109113, ss5315430653, ss5389988954, ss5648186886, ss5829694576, ss5977392902 | NC_000009.11:120478130:G:C | NC_000009.12:117715852:G:C | (self) |
62549669, 336452132, 3910101, 23039880, 744134, 73418979, 671576039, 10049699628, ss2314089943, ss3026707907, ss3724671785, ss3726640164, ss3771522665, ss3812807205, ss3844914454, ss3966661879, ss4834198478, ss5282037271, ss5477920236, ss5575023734, ss5739581875, ss5810971453, ss5856920219, ss5917861985 | NC_000009.12:117715852:G:C | NC_000009.12:117715852:G:C | (self) |
ss52069046 | NT_008470.17:27799334:G:C | NC_000009.12:117715852:G:C | (self) |
ss16214299, ss24078772, ss68074536, ss68386769, ss105440368, ss157931067, ss159979633, ss244272599 | NT_008470.19:49642662:G:C | NC_000009.12:117715852:G:C | (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 |
---|---|---|---|---|
17699831 | Toll-like receptor 4 polymorphism associated with the response to whole-cell pertussis vaccination in children from the KOALA study. | Banus S et al. | 2007 | Clinical and vaccine immunology |
18396467 | Genetic variation and haplotype structures of innate immunity genes in eastern India. | Bairagya BB et al. | 2008 | Infection, genetics and evolution |
18549840 | Cholesterol ester transfer protein, interleukin-8, peroxisome proliferator activator receptor alpha, and Toll-like receptor 4 genetic variations and risk of incident nonfatal myocardial infarction and ischemic stroke. | Enquobahrie DA et al. | 2008 | The American journal of cardiology |
19500628 | Association analysis of Toll-like receptor 4 polymorphisms with autoimmune pancreatitis. | Umemura T et al. | 2009 | Human immunology |
19505919 | Toll-like receptor signaling pathway variants and prostate cancer mortality. | Stark JR et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
19586676 | Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection. | Li Y et al. | 2009 | Journal of hepatology |
20011079 | Lack of association between toll-like receptor 4 gene polymorphisms and sarcoidosis-related uveitis in Japan. | Asukata Y et al. | 2009 | Molecular vision |
20049212 | Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS). | Castro-Giner F et al. | 2009 | Environmental health perspectives |
20200442 | Sequence variants in the TLR4 and TLR6-1-10 genes and prostate cancer risk. Results based on pooled analysis from three independent studies. | Lindström S et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
20461113 | A screening methodology based on Random Forests to improve the detection of gene-gene interactions. | De Lobel L et al. | 2010 | European journal of human genetics |
20721625 | Combined effect of miR-146a rs2910164 G/C polymorphism and Toll-like receptor 4 +3725 G/C polymorphism on the risk of severe gastric atrophy in Japanese. | Hishida A et al. | 2011 | Digestive diseases and sciences |
20977567 | Polymorphism in 3'-untranslated region of toll-like receptor 4 gene is associated with protection from hepatitis B virus recurrence after liver transplantation. | Zhou L et al. | 2011 | Transplant infectious disease |
21081146 | Impact of Toll-like receptor 4 polymorphisms on risk of cancer. | Kutikhin AG et al. | 2011 | Human immunology |
21160888 | Genetic predisposition to Helicobacter pylori-induced gastric precancerous conditions. | Hishida A et al. | 2010 | World journal of gastrointestinal oncology |
21403649 | Association of polymorphisms in the TLR4 gene with the risk of developing neutropenia in children with leukemia. | Miedema KG et al. | 2011 | Leukemia |
21553150 | Sequence variants of Toll-like receptor 4 (TLR4) and the risk of prostate cancer in Korean men. | Kim HJ et al. | 2012 | World journal of urology |
21559380 | Single nucleotide polymorphisms of Toll-like receptor 4 decrease the risk of development of hepatocellular carcinoma. | Minmin S et al. | 2011 | PloS one |
21563195 | Genetic variation in the toll-like receptor 4 and prostate cancer incidence and mortality. | Shui IM et al. | 2012 | The Prostate |
21792899 | Toll-like receptor genes and their association with colon and rectal cancer development and prognosis. | Slattery ML et al. | 2012 | International journal of cancer |
21864388 | Lack of association between gene polymorphisms of Angiotensin converting enzyme, Nod-like receptor 1, Toll-like receptor 4, FAS/FASL and the presence of Helicobacter pylori-induced premalignant gastric lesions and gastric cancer in Caucasians. | Kupcinskas J et al. | 2011 | BMC medical genetics |
21921986 | Toll-like receptor 4 gene polymorphisms do not associate with normal tension glaucoma in a Korean population. | Suh W et al. | 2011 | Molecular vision |
22238472 | Variants in toll-like receptor 1 and 4 genes are associated with Chlamydia trachomatis among women with pelvic inflammatory disease. | Taylor BD et al. | 2012 | The Journal of infectious diseases |
22251849 | The association of Toll-like receptor 4 gene polymorphisms with the development of emphysema in Japanese subjects: a case control study. | Ito M et al. | 2012 | BMC research notes |
22359464 | Are Toll-like receptor gene polymorphisms associated with prostate cancer? | Kutikhin AG et al. | 2012 | Cancer management and research |
22427729 | Inherited variation in pattern recognition receptors and cancer: dangerous liaisons? | Kutikhin AG et al. | 2012 | Cancer management and research |
22661708 | A single nucleotide polymorphism in 3'-untranslated region contributes to the regulation of Toll-like receptor 4 translation. | Sato K et al. | 2012 | The Journal of biological chemistry |
22952638 | Toll-like receptor (TLR2 and TLR4) polymorphisms and chronic obstructive pulmonary disease. | Budulac SE et al. | 2012 | PloS one |
23084080 | The TLR4 gene polymorphisms and susceptibility to cancer: a systematic review and meta-analysis. | Zhang K et al. | 2013 | European journal of cancer (Oxford, England |
23112821 | Genetic variation in TLR genes in Ugandan and South African populations and comparison with HapMap data. | Baker AR et al. | 2012 | PloS one |
23272070 | Sequence variants of toll like receptor 4 and late-onset Alzheimer's disease. | Chen YC et al. | 2012 | PloS one |
24176535 | Polymorphism of Toll-like receptor 4 gene in bipolar disorder. | Oliveira J et al. | 2014 | Journal of affective disorders |
24281113 | Inflammatory genetic markers of prostate cancer risk. | Tindall EA et al. | 2010 | Cancers |
24701578 | The role of single nucleotide polymorphisms in predicting prostate cancer risk and therapeutic decision making. | Van den Broeck T et al. | 2014 | BioMed research international |
24830583 | Association of TLR4 and TLR5 gene polymorphisms with Graves' disease in Chinese Cantonese population. | Xiao W et al. | 2014 | Human immunology |
24833854 | Novel role of toll-like receptors in Helicobacter pylori - induced gastric malignancy. | Uno K et al. | 2014 | World journal of gastroenterology |
24860613 | Genetic risk, ethnic variations and pharmacogenetic biomarkers in age-related macular degeneration and polypoidal choroidal vasculopathy. | Kuo JZ et al. | 2013 | Expert review of ophthalmology |
24929142 | Genetic polymorphisms in the Toll-like receptor signalling pathway in Helicobacter pylori infection and related gastric cancer. | Castaño-Rodríguez N et al. | 2014 | Human immunology |
24950711 | The regulatory toll-like receptor 4 genetic polymorphism rs11536889 is associated with renal, coagulation and hepatic organ failure in sepsis patients. | Mansur A et al. | 2014 | Journal of translational medicine |
25075970 | The associations between immunity-related genes and breast cancer prognosis in Korean women. | Choi J et al. | 2014 | PloS one |
25104099 | Association of Toll-like Receptor 4 Gene polymorphisms with susceptibility to type 2 diabetes mellitus in the Chinese population. | Peng D et al. | 2015 | Journal of diabetes |
25360682 | Polymorphisms of an innate immune gene, toll-like receptor 4, and aggressive prostate cancer risk: a systematic review and meta-analysis. | Weng PH et al. | 2014 | PloS one |
26345801 | Association of TLR2 and TLR4 non-missense single nucleotide polymorphisms with type 2 diabetes risk in a southern Chinese population: a case-control study. | Huang WH et al. | 2015 | Genetics and molecular research |
26959040 | SNP-SNP Interaction between TLR4 and MyD88 in Susceptibility to Coronary Artery Disease in the Chinese Han Population. | Sun D et al. | 2016 | International journal of environmental research and public health |
27057517 | Association of Single Nucleotide Polymorphisms in Toll-like Receptors with Acinetobacter baumanii Infectionin a Chinese Population. | He L et al. | 2016 | Iranian journal of public health |
27070349 | Evidence of activation of the Toll-like receptor-4 proinflammatory pathway in patients with schizophrenia. | García-Bueno B et al. | 2016 | Journal of psychiatry & neuroscience |
27123010 | Association between Toll-Like Receptor 4 and Occurrence of Type 2 Diabetes Mellitus Susceptible to Pulmonary Tuberculosis in Northeast China. | Li Y et al. | 2016 | Stem cells international |
27155792 | TLR2 and TLR4 polymorphisms in Southern Chinese Psoriasis Vulgaris patients. | Shi G et al. | 2016 | Journal of dermatological science |
27339100 | Genetic polymorphisms of IL-17A, IL-17F, TLR4 and miR-146a in association with the risk of pulmonary tuberculosis. | Wang M et al. | 2016 | Scientific reports |
27391584 | Risk Factors for Hepatocellular Carcinoma in Cirrhotic Patients with Chronic Hepatitis B. | Zhang YQ et al. | 2016 | Genetic testing and molecular biomarkers |
27586547 | Host genetics and susceptibility to congenital and childhood cytomegalovirus infection: a systematic review. | Gelemanović A et al. | 2016 | Croatian medical journal |
27652106 | Genetic association of Toll-like receptor 4 gene and coronary artery disease in a Chinese Han population. | Zhou L et al. | 2016 | SpringerPlus |
27713886 | The role of genetics and antibodies in sepsis. | Giamarellos-Bourboulis EJ et al. | 2016 | Annals of translational medicine |
27861595 | TLR4/CD14 Variants-Related Serologic and Immunologic Dys-Regulations Predict Severe Sepsis in Febrile De-Compensated Cirrhotic Patients. | Fan WC et al. | 2016 | PloS one |
27892755 | Association of single-nucleotide polymorphisms in non-coding regions of the TLR4 gene with primary open angle glaucoma in a Mexican population. | Navarro-Partida J et al. | 2017 | Ophthalmic genetics |
28002812 | Toll-like receptor 4 rs11536889 is associated with angiographic extent and severity of coronary artery disease in a Chinese population. | Sun D et al. | 2017 | Oncotarget |
28092654 | Promoter Polymorphism of Toll-Like Receptor 4 is Associated with a Decreased Risk of Coronary Artery Disease: A Case-Control Study in the Chinese Han Population. | Sun D et al. | 2017 | Medical science monitor |
28222760 | TLR4 rs41426344 increases susceptibility of rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) in a central south Chinese Han population. | Wang Y et al. | 2017 | Pediatric rheumatology online journal |
28241976 | Influence of toll-like receptor 4 gene variants and plasma fatty acid profile on systemic inflammation: A population-based cross-sectional study. | Norde MM et al. | 2017 | Nutrition (Burbank, Los Angeles County, Calif.) |
28484092 | Toll-like receptor genetic variations in bone marrow transplantation. | Uchino K et al. | 2017 | Oncotarget |
28497211 | Association of toll-like receptor gene polymorphisms and its interaction with HPV infection in determining the susceptibility of cervical cancer in Chinese Han population. | Jin Y et al. | 2017 | Mammalian genome |
29073942 | Relationship between Toll-like receptor 4 and type-2 diabetes mellitus complicated by tuberculosis. | Wang XH et al. | 2017 | The international journal of tuberculosis and lung disease |
29075930 | TLR4 polymorphisms affect stroke risk and inflammatory response in Chinese ischemic stroke patients. | Gu L et al. | 2018 | Neurological sciences |
29246004 | Comprehensive assessment of association between TLR4 gene polymorphisms and cancer risk: a systematic meta-analysis. | Ding L et al. | 2017 | Oncotarget |
29348888 | The association analysis of TLR2 and TLR4 gene with tuberculosis in the Tibetan Chinese population. | Xue X et al. | 2017 | Oncotarget |
29744169 | Inflammatory mediator polymorphisms associate with initial periodontitis in adolescents. | Heikkinen AM et al. | 2016 | Clinical and experimental dental research |
29754966 | TLR4 gene polymorphisms rs11536889 is associated with intracranial aneurysm susceptibility. | Liu L et al. | 2018 | Journal of clinical neuroscience |
30177119 | Toll-like Receptor 4 Single-Nucleotide Polymorphisms and Heart Transplant Rejection. | Prokop E et al. | 2018 | Transplantation proceedings |
30594449 | Interaction between toll-like receptor 4 (TLR4) gene and alcohol drinking on Parkinson's disease risk in Chinese Han population. | Li Z et al. | 2019 | Journal of clinical neuroscience |
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 |
30972742 | One functional variant in the 3'-untranslated region of TLR4 is associated with the elevated risk of ventilator-associated pneumonia in the patients with chronic obstructive pulmonary disease. | Zhao X et al. | 2019 | Journal of cellular physiology |
31082501 | Association of Toll-like receptor 4 polymorphisms with the risk of coronary artery disease in the ethnic Zhuang population of the Guangxi Province of China. | Huang Z et al. | 2019 | Gene |
31278284 | Association of TLR4 and TLR9 polymorphisms and haplotypes with cervical cancer susceptibility. | Pandey NO et al. | 2019 | Scientific reports |
31365550 | Association of TLR4 and TLR9 gene polymorphisms and haplotypes with cervicitis susceptibility. | Chauhan A et al. | 2019 | PloS one |
31428642 | Associations between TLR4 Polymorphisms and Open Angle Glaucoma: A Meta-Analysis. | Lin Z et al. | 2019 | BioMed research international |
31640653 | Functional variations of the TLR4 gene in association with chronic obstructive pulmonary disease and pulmonary tuberculosis. | Li Z et al. | 2019 | BMC pulmonary medicine |
31772831 | TLR4 polymorphisms may increase susceptibility to periodontitis in Pg-positive individuals. | Li W et al. | 2019 | PeerJ |
31883451 | Association between microRNA binding site polymorphisms in immunoinflammatory genes and recurrence risk of ischemic stroke. | Zhu R et al. | 2020 | Genomics |
32213001 | UEG Week 2019 Poster Presentations. | 2019 | United European gastroenterology journal | |
32648572 | Polymorphisms of TLR2, TLR4 and TOLLIP and tuberculosis in two independent studies. | Wu S et al. | 2020 | Bioscience reports |
32763359 | Association of the TLR4 gene with depressive symptoms and antidepressant efficacy in major depressive disorder. | Wang J et al. | 2020 | Neuroscience letters |
32822111 | Quantitative assessment of TLR4 gene polymorphisms and T2DM risk: A meta-analysis. | Fan J et al. | 2020 | Molecular genetics & genomic medicine |
32871478 | Polymorphisms and haplotypes of TLR4, TLR9 and CYP1A1 genes possibly interfere with high-risk human papillomavirus infection and cervical cancer susceptibility in Jharkhand, India. | Nath N et al. | 2020 | International immunopharmacology |
33426065 | Association of Toll-Like Receptor 4 Gene Polymorphisms with Acute Aortic Dissection in a Chinese Han Population. | Li T et al. | 2020 | BioMed research international |
33516663 | TLR4 rs1927914 polymorphism contributes to serum TLR4 levels in patients with aortic aneurysm. | Li T et al. | 2021 | Experimental and molecular pathology |
33655025 | Factors associated with the progression of gastric intestinal metaplasia: a multicenter, prospective cohort study. | Nieuwenburg SAV et al. | 2021 | Endoscopy international open |
33777838 | The Association of TLR2, TLR3, and TLR9 Gene Polymorphisms With Susceptibility to Talaromycosis Among Han Chinese AIDS Patients in Guangdong. | Wang M et al. | 2021 | Frontiers in cellular and infection microbiology |
34061379 | TLR3 polymorphisms are associated with the severity of hand, foot, and mouth disease caused by enterovirus A71 in a Chinese children population. | Chen GP et al. | 2021 | Journal of medical virology |
34420402 | Association of toll-like receptor 4, 5 and 10 polymorphisms with Helicobacter pylori-positive peptic ulcer disease in a center in Jordan. | Al-Eitan L et al. | 2021 | Annals of Saudi medicine |
34834553 | Innate-Immunity Genes in Obesity. | Mikhailova SV et al. | 2021 | Journal of personalized medicine |
35018107 | Associations Among Disseminated Intravascular Coagulation, Thrombocytopenia Cytokines/Chemokines and Genetic Polymorphisms of Toll-Like Receptor 2/4 in Chinese Patients with Sepsis. | Jiang S et al. | 2022 | Journal of inflammation research |
35330409 | Association of TLR4 Rs4986791 Polymorphism and TLR9 Haplotypes with Acute Myeloid Leukemia Susceptibility: A Case-Control Study of Adult Patients. | Banescu C et al. | 2022 | Journal of personalized medicine |
35349724 | TLR4 polymorphisms as potential predictors of atopic dermatitis in Chinese Han children. | Shi J et al. | 2022 | Journal of clinical laboratory analysis |
35566612 | Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand? | Belamkar A et al. | 2022 | Journal of clinical medicine |
35815676 | Toll-Like Receptor 4 Gene Polymorphisms and Susceptibility to Schizophrenia: A Case-Control Study. | Mostafa M et al. | 2022 | Immunological investigations |
35836860 | Relationship between tool-like receptor 4 gene polymorphism and the susceptibility to pulmonary tuberculosis. | Muheremu A et al. | 2022 | American journal of translational research |
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.