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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.

rs5743708

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:153705165 (GRCh38.p13) Help

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

Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.015093 (3995/264690, TOPMED)
A=0.017426 (4375/251060, GnomAD_exome)
A=0.018441 (2584/140124, GnomAD) (+ 18 more)
A=0.017272 (2091/121066, ExAC)
A=0.02627 (1810/68908, ALFA)
A=0.00006 (1/16760, 8.3KJPN)
A=0.02222 (289/13006, GO-ESP)
A=0.0068 (34/5008, 1000G)
A=0.0475 (213/4480, Estonian)
A=0.0301 (116/3854, ALSPAC)
A=0.0359 (133/3708, TWINSUK)
A=0.051 (51/998, GoNL)
A=0.012 (7/600, NorthernSweden)
A=0.004 (2/534, MGP)
A=0.019 (6/316, HapMap)
A=0.030 (9/304, FINRISK)
A=0.10 (6/62, Ancient Sardinia)
G=0.5 (4/8, SGDP_PRJ)
A=0.5 (4/8, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TLR2 : Missense Variant
Publications
107 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 68908 G=0.97373 A=0.02627
European Sub 56386 G=0.97107 A=0.02893
African Sub 3574 G=0.9975 A=0.0025
African Others Sub 122 G=1.000 A=0.000
African American Sub 3452 G=0.9974 A=0.0026
Asian Sub 168 G=1.000 A=0.000
East Asian Sub 112 G=1.000 A=0.000
Other Asian Sub 56 G=1.00 A=0.00
Latin American 1 Sub 500 G=0.996 A=0.004
Latin American 2 Sub 648 G=0.992 A=0.008
South Asian Sub 98 G=1.00 A=0.00
Other Sub 7534 G=0.9784 A=0.0216


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.984907 A=0.015093
gnomAD - Exomes Global Study-wide 251060 G=0.982574 A=0.017426
gnomAD - Exomes European Sub 135052 G=0.971404 A=0.028596
gnomAD - Exomes Asian Sub 49010 G=0.99839 A=0.00161
gnomAD - Exomes American Sub 34576 G=0.99439 A=0.00561
gnomAD - Exomes African Sub 16234 G=0.99612 A=0.00388
gnomAD - Exomes Ashkenazi Jewish Sub 10060 G=0.99254 A=0.00746
gnomAD - Exomes Other Sub 6128 G=0.9834 A=0.0166
gnomAD - Genomes Global Study-wide 140124 G=0.981559 A=0.018441
gnomAD - Genomes European Sub 75868 G=0.97055 A=0.02945
gnomAD - Genomes African Sub 42000 G=0.99567 A=0.00433
gnomAD - Genomes American Sub 13650 G=0.99158 A=0.00842
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9925 A=0.0075
gnomAD - Genomes East Asian Sub 3128 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=0.9870 A=0.0130
ExAC Global Study-wide 121066 G=0.982728 A=0.017272
ExAC Europe Sub 73048 G=0.97354 A=0.02646
ExAC Asian Sub 25162 G=0.99833 A=0.00167
ExAC American Sub 11576 G=0.99499 A=0.00501
ExAC African Sub 10372 G=0.99605 A=0.00395
ExAC Other Sub 908 G=0.981 A=0.019
Allele Frequency Aggregator Total Global 68908 G=0.97373 A=0.02627
Allele Frequency Aggregator European Sub 56386 G=0.97107 A=0.02893
Allele Frequency Aggregator Other Sub 7534 G=0.9784 A=0.0216
Allele Frequency Aggregator African Sub 3574 G=0.9975 A=0.0025
Allele Frequency Aggregator Latin American 2 Sub 648 G=0.992 A=0.008
Allele Frequency Aggregator Latin American 1 Sub 500 G=0.996 A=0.004
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.99994 A=0.00006
GO Exome Sequencing Project Global Study-wide 13006 G=0.97778 A=0.02222
GO Exome Sequencing Project European American Sub 8600 G=0.9691 A=0.0309
GO Exome Sequencing Project African American Sub 4406 G=0.9948 A=0.0052
1000Genomes Global Study-wide 5008 G=0.9932 A=0.0068
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=0.9761 A=0.0239
1000Genomes South Asian Sub 978 G=0.999 A=0.001
1000Genomes American Sub 694 G=0.988 A=0.012
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9525 A=0.0475
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9699 A=0.0301
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9641 A=0.0359
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.949 A=0.051
Northern Sweden ACPOP Study-wide 600 G=0.988 A=0.012
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.996 A=0.004
HapMap Global Study-wide 316 G=0.981 A=0.019
HapMap African Sub 116 G=1.000 A=0.000
HapMap American Sub 116 G=0.948 A=0.052
HapMap Asian Sub 84 G=1.00 A=0.00
FINRISK Finnish from FINRISK project Study-wide 304 G=0.970 A=0.030
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 62 G=0.90 A=0.10
SGDP_PRJ Global Study-wide 8 G=0.5 A=0.5
Siberian Global Study-wide 2 G=0.5 A=0.5
Help

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

Genomic Placements
Sequence name Change
GRCh38.p13 chr 4 NC_000004.12:g.153705165G>A
GRCh37.p13 chr 4 NC_000004.11:g.154626317G>A
TLR2 RefSeqGene NG_016229.1:g.25877G>A
Gene: TLR2, toll like receptor 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TLR2 transcript variant 6 NM_001318793.2:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 precursor NP_001305722.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant 7 NM_001318795.2:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 precursor NP_001305724.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant 5 NM_001318791.2:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 precursor NP_001305720.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant 1 NM_001318787.2:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 precursor NP_001305716.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant 4 NM_001318790.2:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 precursor NP_001305719.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant 3 NM_003264.5:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 precursor NP_003255.2:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant 2 NM_001318789.2:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 precursor NP_001305718.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant 8 NM_001318796.2:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 precursor NP_001305725.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant X1 XM_017008573.1:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 isoform X1 XP_016864062.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant X2 XM_017008574.1:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 isoform X1 XP_016864063.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant X3 XM_017008575.1:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 isoform X1 XP_016864064.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant X4 XM_017008576.1:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 isoform X1 XP_016864065.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant X5 XM_011532215.2:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 isoform X1 XP_011530517.1:p.Arg753Gln R (Arg) > Q (Gln) Missense Variant
TLR2 transcript variant X6 XM_011532216.2:c.2258G>A R [CGG] > Q [CAG] Coding Sequence Variant
toll-like receptor 2 isoform X1 XP_011530518.1:p.Arg753Gln R (Arg) > Q (Gln) 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: A (allele ID: 49355 )
ClinVar Accession Disease Names Clinical Significance
RCV000033853.4 Mycobacterium tuberculosis, susceptibility to Risk-Factor
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 G= A
GRCh38.p13 chr 4 NC_000004.12:g.153705165= NC_000004.12:g.153705165G>A
GRCh37.p13 chr 4 NC_000004.11:g.154626317= NC_000004.11:g.154626317G>A
TLR2 RefSeqGene NG_016229.1:g.25877= NG_016229.1:g.25877G>A
TLR2 transcript variant 3 NM_003264.5:c.2258= NM_003264.5:c.2258G>A
TLR2 transcript variant 3 NM_003264.4:c.2258= NM_003264.4:c.2258G>A
TLR2 transcript NM_003264.3:c.2258= NM_003264.3:c.2258G>A
TLR2 transcript variant 1 NM_001318787.2:c.2258= NM_001318787.2:c.2258G>A
TLR2 transcript variant 1 NM_001318787.1:c.2258= NM_001318787.1:c.2258G>A
TLR2 transcript variant 2 NM_001318789.2:c.2258= NM_001318789.2:c.2258G>A
TLR2 transcript variant 2 NM_001318789.1:c.2258= NM_001318789.1:c.2258G>A
TLR2 transcript variant 4 NM_001318790.2:c.2258= NM_001318790.2:c.2258G>A
TLR2 transcript variant 4 NM_001318790.1:c.2258= NM_001318790.1:c.2258G>A
TLR2 transcript variant 5 NM_001318791.2:c.2258= NM_001318791.2:c.2258G>A
TLR2 transcript variant 5 NM_001318791.1:c.2258= NM_001318791.1:c.2258G>A
TLR2 transcript variant 6 NM_001318793.2:c.2258= NM_001318793.2:c.2258G>A
TLR2 transcript variant 6 NM_001318793.1:c.2258= NM_001318793.1:c.2258G>A
TLR2 transcript variant 7 NM_001318795.2:c.2258= NM_001318795.2:c.2258G>A
TLR2 transcript variant 7 NM_001318795.1:c.2258= NM_001318795.1:c.2258G>A
TLR2 transcript variant 8 NM_001318796.2:c.2258= NM_001318796.2:c.2258G>A
TLR2 transcript variant 8 NM_001318796.1:c.2258= NM_001318796.1:c.2258G>A
TLR2 transcript variant X5 XM_011532215.2:c.2258= XM_011532215.2:c.2258G>A
TLR2 transcript variant X6 XM_011532216.2:c.2258= XM_011532216.2:c.2258G>A
TLR2 transcript variant X4 XM_017008576.1:c.2258= XM_017008576.1:c.2258G>A
TLR2 transcript variant X1 XM_017008573.1:c.2258= XM_017008573.1:c.2258G>A
TLR2 transcript variant X3 XM_017008575.1:c.2258= XM_017008575.1:c.2258G>A
TLR2 transcript variant X2 XM_017008574.1:c.2258= XM_017008574.1:c.2258G>A
toll-like receptor 2 precursor NP_003255.2:p.Arg753= NP_003255.2:p.Arg753Gln
toll-like receptor 2 precursor NP_001305716.1:p.Arg753= NP_001305716.1:p.Arg753Gln
toll-like receptor 2 precursor NP_001305718.1:p.Arg753= NP_001305718.1:p.Arg753Gln
toll-like receptor 2 precursor NP_001305719.1:p.Arg753= NP_001305719.1:p.Arg753Gln
toll-like receptor 2 precursor NP_001305720.1:p.Arg753= NP_001305720.1:p.Arg753Gln
toll-like receptor 2 precursor NP_001305722.1:p.Arg753= NP_001305722.1:p.Arg753Gln
toll-like receptor 2 precursor NP_001305724.1:p.Arg753= NP_001305724.1:p.Arg753Gln
toll-like receptor 2 precursor NP_001305725.1:p.Arg753= NP_001305725.1:p.Arg753Gln
toll-like receptor 2 isoform X1 XP_011530517.1:p.Arg753= XP_011530517.1:p.Arg753Gln
toll-like receptor 2 isoform X1 XP_011530518.1:p.Arg753= XP_011530518.1:p.Arg753Gln
toll-like receptor 2 isoform X1 XP_016864065.1:p.Arg753= XP_016864065.1:p.Arg753Gln
toll-like receptor 2 isoform X1 XP_016864062.1:p.Arg753= XP_016864062.1:p.Arg753Gln
toll-like receptor 2 isoform X1 XP_016864064.1:p.Arg753= XP_016864064.1:p.Arg753Gln
toll-like receptor 2 isoform X1 XP_016864063.1:p.Arg753= XP_016864063.1:p.Arg753Gln
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#.

60 SubSNP, 19 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 IIPGA-WEISS-MARTINEZ ss7987693 Apr 21, 2003 (114)
2 SNP500CANCER ss48297135 Mar 13, 2006 (126)
3 PERLEGEN ss68915072 May 17, 2007 (127)
4 BCMHGSC_JDW ss92834584 Mar 24, 2008 (129)
5 SEATTLESEQ ss159708587 Dec 01, 2009 (131)
6 ILLUMINA ss160744833 Dec 01, 2009 (131)
7 1000GENOMES ss232662281 Jul 14, 2010 (132)
8 NHLBI-ESP ss342173302 May 09, 2011 (134)
9 ILLUMINA ss482164470 Sep 08, 2015 (146)
10 1000GENOMES ss490896112 May 04, 2012 (137)
11 EXOME_CHIP ss491361656 May 04, 2012 (137)
12 CLINSEQ_SNP ss491861024 May 04, 2012 (137)
13 ILLUMINA ss783516337 Sep 08, 2015 (146)
14 OMIM-CURATED-RECORDS ss836177066 Oct 18, 2013 (136)
15 EVA-GONL ss980852680 Aug 21, 2014 (142)
16 1000GENOMES ss1312477594 Aug 21, 2014 (142)
17 EVA_FINRISK ss1584036623 Apr 01, 2015 (144)
18 EVA_DECODE ss1590366060 Apr 01, 2015 (144)
19 EVA_UK10K_ALSPAC ss1611521201 Apr 01, 2015 (144)
20 EVA_UK10K_TWINSUK ss1654515234 Apr 01, 2015 (144)
21 EVA_EXAC ss1687668038 Apr 01, 2015 (144)
22 EVA_MGP ss1711074058 Apr 01, 2015 (144)
23 ILLUMINA ss1917785600 Feb 12, 2016 (147)
24 ILLUMINA ss1946130340 Feb 12, 2016 (147)
25 ILLUMINA ss1958731117 Feb 12, 2016 (147)
26 JJLAB ss2022631477 Sep 14, 2016 (149)
27 ILLUMINA ss2094817089 Dec 20, 2016 (150)
28 USC_VALOUEV ss2150764458 Dec 20, 2016 (150)
29 HUMAN_LONGEVITY ss2268506308 Dec 20, 2016 (150)
30 TOPMED ss2436443325 Dec 20, 2016 (150)
31 ILLUMINA ss2634195830 Nov 08, 2017 (151)
32 GNOMAD ss2734782824 Nov 08, 2017 (151)
33 GNOMAD ss2747317021 Nov 08, 2017 (151)
34 GNOMAD ss2817168157 Nov 08, 2017 (151)
35 AFFY ss2985306679 Nov 08, 2017 (151)
36 SWEGEN ss2995822688 Nov 08, 2017 (151)
37 ILLUMINA ss3022427798 Nov 08, 2017 (151)
38 CSHL ss3346036726 Nov 08, 2017 (151)
39 TOPMED ss3447151461 Nov 08, 2017 (151)
40 ILLUMINA ss3625858488 Oct 12, 2018 (152)
41 ILLUMINA ss3634976141 Oct 12, 2018 (152)
42 ILLUMINA ss3636683326 Oct 12, 2018 (152)
43 ILLUMINA ss3640683434 Oct 12, 2018 (152)
44 ILLUMINA ss3644863183 Oct 12, 2018 (152)
45 ILLUMINA ss3652918392 Oct 12, 2018 (152)
46 ILLUMINA ss3654078731 Oct 12, 2018 (152)
47 EGCUT_WGS ss3663732349 Jul 13, 2019 (153)
48 EVA_DECODE ss3713381358 Jul 13, 2019 (153)
49 ACPOP ss3731750188 Jul 13, 2019 (153)
50 ILLUMINA ss3744530815 Jul 13, 2019 (153)
51 ILLUMINA ss3745276368 Jul 13, 2019 (153)
52 EVA ss3762611013 Jul 13, 2019 (153)
53 EVA ss3824052552 Apr 26, 2020 (154)
54 EVA ss3825665743 Apr 26, 2020 (154)
55 EVA ss3828889750 Apr 26, 2020 (154)
56 SGDP_PRJ ss3860402316 Apr 26, 2020 (154)
57 EVA ss3985103895 Apr 26, 2021 (155)
58 EVA ss3986294420 Apr 26, 2021 (155)
59 TOPMED ss4637824812 Apr 26, 2021 (155)
60 TOMMO_GENOMICS ss5168757325 Apr 26, 2021 (155)
61 1000Genomes NC_000004.11 - 154626317 Oct 12, 2018 (152)
62 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 154626317 Oct 12, 2018 (152)
63 Genetic variation in the Estonian population NC_000004.11 - 154626317 Oct 12, 2018 (152)
64 ExAC NC_000004.11 - 154626317 Oct 12, 2018 (152)
65 FINRISK NC_000004.11 - 154626317 Apr 26, 2020 (154)
66 gnomAD - Genomes NC_000004.12 - 153705165 Apr 26, 2021 (155)
67 gnomAD - Exomes NC_000004.11 - 154626317 Jul 13, 2019 (153)
68 GO Exome Sequencing Project NC_000004.11 - 154626317 Oct 12, 2018 (152)
69 Genome of the Netherlands Release 5 NC_000004.11 - 154626317 Apr 26, 2020 (154)
70 HapMap NC_000004.12 - 153705165 Apr 26, 2020 (154)
71 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 154626317 Apr 26, 2020 (154)
72 Northern Sweden NC_000004.11 - 154626317 Jul 13, 2019 (153)
73 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 154626317 Apr 26, 2021 (155)
74 SGDP_PRJ NC_000004.11 - 154626317 Apr 26, 2020 (154)
75 Siberian NC_000004.11 - 154626317 Apr 26, 2020 (154)
76 8.3KJPN NC_000004.11 - 154626317 Apr 26, 2021 (155)
77 TopMed NC_000004.12 - 153705165 Apr 26, 2021 (155)
78 UK 10K study - Twins NC_000004.11 - 154626317 Oct 12, 2018 (152)
79 ALFA NC_000004.12 - 153705165 Apr 26, 2021 (155)
80 ClinVar RCV000033853.4 Oct 12, 2018 (152)
Help

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

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss92834584, ss491861024, ss1590366060 NC_000004.10:154845766:G:A NC_000004.12:153705164:G:A (self)
23977632, 13335239, 9470597, 7647480, 33084, 3894688, 510738, 5906166, 189818, 5035053, 329822, 12419296, 3280812, 26726632, 13335239, ss232662281, ss342173302, ss482164470, ss490896112, ss491361656, ss783516337, ss980852680, ss1312477594, ss1584036623, ss1611521201, ss1654515234, ss1687668038, ss1711074058, ss1917785600, ss1946130340, ss1958731117, ss2022631477, ss2094817089, ss2150764458, ss2436443325, ss2634195830, ss2734782824, ss2747317021, ss2817168157, ss2985306679, ss2995822688, ss3022427798, ss3346036726, ss3625858488, ss3634976141, ss3636683326, ss3640683434, ss3644863183, ss3652918392, ss3654078731, ss3663732349, ss3731750188, ss3744530815, ss3745276368, ss3762611013, ss3824052552, ss3825665743, ss3828889750, ss3860402316, ss3985103895, ss3986294420, ss5168757325 NC_000004.11:154626316:G:A NC_000004.12:153705164:G:A (self)
RCV000033853.4, 169852108, 2737853, 297074597, 475202368, 7785968456, ss836177066, ss2268506308, ss3447151461, ss3713381358, ss4637824812 NC_000004.12:153705164:G:A NC_000004.12:153705164:G:A (self)
ss7987693, ss48297135, ss68915072, ss159708587, ss160744833 NT_016354.19:79174037:G:A NC_000004.12:153705164:G:A (self)
Help

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

107 citations for rs5743708
PMID Title Author Year Journal
14979495 The Arg753GLn polymorphism of the human toll-like receptor 2 gene in tuberculosis disease. Ogus AC et al. 2004 The European respiratory journal
16081826 Heterozygous Arg753Gln polymorphism of human TLR-2 impairs immune activation by Borrelia burgdorferi and protects from late stage Lyme disease. Schröder NW et al. 2005 Journal of immunology (Baltimore, Md.
16608528 Genetic polymorphisms and susceptibility to lung disease. Lee PL et al. 2006 Journal of negative results in biomedicine
16846490 Lemierre's syndrome and genetic polymorphisms: a case report. Constantin JM et al. 2006 BMC infectious diseases
17565608 Linkage between Toll-like receptor (TLR) 2 promotor and intron polymorphisms: functional effects and relevance to sarcoidosis. Veltkamp M et al. 2007 Clinical and experimental immunology
17667860 Toll-like receptor 2 polymorphism is associated with preterm birth. Krediet TG et al. 2007 Pediatric research
18396467 Genetic variation and haplotype structures of innate immunity genes in eastern India. Bairagya BB et al. 2008 Infection, genetics and evolution
18975326 Toll-like receptor 2 variants are associated with acute reactive arthritis. Tsui FW et al. 2008 Arthritis and rheumatism
19029192 A pooled investigation of Toll-like receptor gene variants and risk of non-Hodgkin lymphoma. Purdue MP et al. 2009 Carcinogenesis
19134200 No evidence of major effects in several Toll-like receptor gene polymorphisms in rheumatoid arthritis. Jaen O et al. 2009 Arthritis research & therapy
19543401 Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women. Hawn TR et al. 2009 PloS one
20016852 Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women. Hawn TR et al. 2009 PloS one
20196868 Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis. Motsinger-Reif AA et al. 2010 BMC medical genetics
20445564 Single nucleotide polymorphisms in toll-like receptor 6 are associated with altered lipopeptide- and mycobacteria-induced interleukin-6 secretion. Shey MS et al. 2010 Genes and immunity
20463618 Role of polymorphic variants as genetic modulators of infection in neonatal sepsis. Abu-Maziad A et al. 2010 Pediatric research
20577092 Genetic variation of innate immune genes in HIV-infected african patients with or without oropharyngeal candidiasis. Plantinga TS et al. 2010 Journal of acquired immune deficiency syndromes (1999)
20595247 Polymorphisms of innate pattern recognition receptors, response to interferon-beta and development of neutralizing antibodies in multiple sclerosis patients. Enevold C et al. 2010 Multiple sclerosis (Houndmills, Basingstoke, England)
20646321 Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk. Ashton KA et al. 2010 BMC cancer
20818961 Inflammatory mediators gene polymorphisms in preeclampsia. Franchim CS et al. 2011 Hypertension in pregnancy
21159925 Toll-like receptor 4 gene (TLR4), but not TLR2, polymorphisms modify the risk of tonsillar disease due to Streptococcus pyogenes and Haemophilus influenzae. Liadaki K et al. 2011 Clinical and vaccine immunology
21179534 Genetic variants in toll-like receptors are not associated with rheumatoid arthritis susceptibility or anti-tumour necrosis factor treatment outcome. Coenen MJ et al. 2010 PloS one
21219635 Variants in the Toll-interacting protein gene are associated with susceptibility to sepsis in the Chinese Han population. Song Z et al. 2011 Critical care (London, England)
21298446 Genetic variants in TLR2 and TLR4 are associated with markers of monocyte activation: the Atherosclerosis Risk in Communities MRI Study. Bielinski SJ et al. 2011 Human genetics
21356257 Toll-like receptor (TLR) 2 promoter and intron 2 polymorphisms are associated with increased risk for spontaneous bacterial peritonitis in liver cirrhosis. Nischalke HD et al. 2011 Journal of hepatology
21466684 Genetic variation of TLR4 influences immunoendocrine stress response: an observational study in cardiac surgical patients. Koch A et al. 2011 Critical care (London, England)
21500195 The toll-like receptor 2 (TLR2) -196 to -174 del/ins polymorphism affects viral loads and susceptibility to hepatocellular carcinoma in chronic hepatitis C. Nischalke HD et al. 2012 International journal of cancer
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
21852947 Association of human TLR1 and TLR6 deficiency with altered immune responses to BCG vaccination in South African infants. Randhawa AK et al. 2011 PLoS pathogens
21920464 Toll-like receptor 4 variant D299G induces features of neoplastic progression in Caco-2 intestinal cells and is associated with advanced human colon cancer. Eyking A et al. 2011 Gastroenterology
21931695 Association of inherited variation in Toll-like receptor genes with malignant melanoma susceptibility and survival. Gast A et al. 2011 PloS one
22022564 Nasopharyngeal bacterial colonization and gene polymorphisms of mannose-binding lectin and toll-like receptors 2 and 4 in infants. Vuononvirta J et al. 2011 PloS one
22128242 The role of toll-like receptor variants in acute anterior uveitis. Pratap DS et al. 2011 Molecular vision
22301633 Toll-like receptor 1 polymorphisms increase susceptibility to candidemia. Plantinga TS et al. 2012 The Journal of infectious diseases
22359464 Are Toll-like receptor gene polymorphisms associated with prostate cancer? Kutikhin AG et al. 2012 Cancer management and research
22494793 Innate immunity gene single nucleotide polymorphisms and otitis media. Carroll SR et al. 2012 International journal of pediatric otorhinolaryngology
22529866 Genetic Diversity of Toll-Like Receptors and Immunity to M. leprae Infection. Hart BE et al. 2012 Journal of tropical medicine
22662111 Polymorphisms in Toll-like receptors 2, 4, and 9 are highly associated with hearing loss in survivors of bacterial meningitis. van Well GT et al. 2012 PloS one
22952638 Toll-like receptor (TLR2 and TLR4) polymorphisms and chronic obstructive pulmonary disease. Budulac SE et al. 2012 PloS one
22992740 R753Q polymorphism inhibits Toll-like receptor (TLR) 2 tyrosine phosphorylation, dimerization with TLR6, and recruitment of myeloid differentiation primary response protein 88. Xiong Y et al. 2012 The Journal of biological chemistry
23112821 Genetic variation in TLR genes in Ugandan and South African populations and comparison with HapMap data. Baker AR et al. 2012 PloS one
23151015 Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children. Esposito S et al. 2012 Virology journal
23289617 Genetic variation of TLR2 and TLR4 among the Saudi Arabian population: insight into the evolutionary dynamics of the Arabian Peninsula. Abu-Amero KK et al. 2013 Genetic testing and molecular biomarkers
23316245 The host genetic diversity in malaria infection. de Mendonça VR et al. 2012 Journal of tropical medicine
23390954 Three multiplex snapshot assays for SNP genotyping in candidate innate immune genes. Esteves LM et al. 2013 BMC research notes
23417289 Coding variants of TLR2 and TLR4 genes do not substantially contribute to prosthetic joint infection. Mrazek F et al. 2013 Inflammation research
23776356 Allergic rhinitis and genetic components: focus on Toll-like receptors (TLRs) gene polymorphism. Gao Z et al. 2010 The application of clinical genetics
23992203 TLR-2 gene polymorphisms and susceptibility to cancer: evidence from meta-analysis. Wang XQ et al. 2013 Genetic testing and molecular biomarkers
23994582 Genetic variations in toll-like receptor pathway and lung function decline in Cystic fibrosis patients. Haerynck F et al. 2013 Human immunology
24053111 Variants in toll-like receptor 9 gene influence susceptibility to tuberculosis in a Mexican population. Torres-García D et al. 2013 Journal of translational medicine
25000179 Genetic polymorphisms and sepsis in premature neonates. Esposito S et al. 2014 PloS one
25020893
25213166 An association between single nucleotide polymorphisms within TLR and TREM-1 genes and infective endocarditis. Golovkin AS et al. 2015 Cytokine
25482673 TLR2, TLR4 and CD86 gene polymorphisms in recurrent aphthous stomatitis. Karasneh J et al. 2015 Journal of oral pathology & medicine
25516666 Cytokine production in patients with cirrhosis and TLR4 polymorphisms. Nieto JC et al. 2014 World journal of gastroenterology
25541970 The influence of the CHIEF pathway on colorectal cancer-specific mortality. Slattery ML et al. 2014 PloS one
25560985 Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious diseases. Skevaki C et al. 2015 Clinical and experimental immunology
25590839 TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cerebral infarction in the Southern Han population: a case-control study. Song Y et al. 2015 Medicine
25605403 Toll-like receptor 2 subfamily gene polymorphisms are associated with Bacillus Calmette-Guérin osteitis following newborn vaccination. Pöyhönen L et al. 2015 Acta paediatrica (Oslo, Norway
25807366 Urinary proteins, vitamin D and genetic polymorphisms as risk factors for febrile urinary tract infection and relation with bacteremia: a case control study. van der Starre WE et al. 2015 PloS one
26023918 Association between TLR2 and TLR4 Gene Polymorphisms and the Susceptibility to Inflammatory Bowel Disease: A Meta-Analysis. Cheng Y et al. 2015 PloS one
26079505 Genetic polymorphisms in pattern recognition receptors and risk of periodontitis: Evidence based on 12,793 subjects. Han MX et al. 2015 Human immunology
26398587 Toll-Like Receptors 2 and 4 Polymorphisms in Age-Related Macular Degeneration. Güven M et al. 2016 Current eye research
26430737 TLR1, 2, 4, 6 and 9 Variants Associated with Tuberculosis Susceptibility: A Systematic Review and Meta-Analysis. Schurz H et al. 2015 PloS one
26524966 The role of host genetic factors in respiratory tract infectious diseases: systematic review, meta-analyses and field synopsis. Patarčić I et al. 2015 Scientific reports
26741133 Gene Polymorphism of Toll-Like Receptors and Lung Function at Five to Seven Years of Age after Infant Bronchiolitis. Lauhkonen E et al. 2016 PloS one
26963509 Polymorphisms of Dectin-1 and TLR2 Predispose to Invasive Fungal Disease in Patients with Acute Myeloid Leukemia. Fischer M et al. 2016 PloS one
26986131 Human Cytokine Genetic Variants Associated With HBsAg Reverse Seroconversion in Rituximab-Treated Non-Hodgkin Lymphoma Patients. Hsiao LT et al. 2016 Medicine
27004062 Molecular Genetic of Atopic dermatitis: An Update. Al-Shobaili HA et al. 2016 International journal of health sciences
27124026 25-Hydroxy Vitamin D, Vitamin D Receptor and Toll-like Receptor 2 Polymorphisms in Spinal Tuberculosis: A Case-Control Study. Panwar A et al. 2016 Medicine
27155792 TLR2 and TLR4 polymorphisms in Southern Chinese Psoriasis Vulgaris patients. Shi G et al. 2016 Journal of dermatological science
27200266 Association of TLR and TREM-1 gene polymorphisms with atherosclerosis severity in a Russian population. Kutikhin AG et al. 2016 Meta gene
27240411 N. meningitidis and TLR Polymorphisms: A Fascinating Immunomodulatory Network. Gianchecchi E et al. 2016 Vaccines
27247849 Genetic variation and cognitive dysfunction in opioid-treated patients with cancer. Kurita GP et al. 2016 Brain and behavior
27432718 Variation of 46 Innate Immune Genes Evaluated for their Contribution in Pneumococcal Meningitis Susceptibility and Outcome. Ferwerda B et al. 2016 EBioMedicine
27498757 Post-bronchiolitis wheezing is associated with toll-like receptor 9 rs187084 gene polymorphism. Nuolivirta K et al. 2016 Scientific reports
27507606 The Correlation of Increased CRP Levels with NFKB1 and TLR2 Polymorphisms in the Case of Morbid Obesity. Soydas T et al. 2016 Scandinavian journal of immunology
27586547 Host genetics and susceptibility to congenital and childhood cytomegalovirus infection: a systematic review. Gelemanović A et al. 2016 Croatian medical journal
27589735 A Genomics-Based Model for Prediction of Severe Bioprosthetic Mitral Valve Calcification. Ponasenko AV et al. 2016 International journal of molecular sciences
27713886 The role of genetics and antibodies in sepsis. Giamarellos-Bourboulis EJ et al. 2016 Annals of translational medicine
27725770 Genetic dissection of host immune response in pneumonia development and progression. Smelaya TV et al. 2016 Scientific reports
28046022 Association of TLR3 L412F Polymorphism with Cytomegalovirus Infection in Children. Studzińska M et al. 2017 PloS one
28148965 Rapid detection of functional gene polymorphisms of TLRs and IL-17 using high resolution melting analysis. Teräsjärvi J et al. 2017 Scientific reports
28340580 Toll-like receptors genes polymorphisms and the occurrence of HCMV infection among pregnant women. Wujcicka W et al. 2017 Virology journal
28411367 Serum 25(OH)D concentration, common variants of the VDR gene and lung cancer occurrence. Gromowski T et al. 2017 International journal of cancer
28443596 Lack of Association Between Toll-like Receptor 2 Polymorphisms (R753Q and A-16934T) and Atopic Dermatitis in Children from Thrace Region of Turkey. Can C et al. 2017 Balkan medical journal
28487240 Analysis of TLR2, TLR4, and TLR9 single nucleotide polymorphisms in children with bacterial meningitis and their healthy family members. Gowin E et al. 2017 International journal of infectious diseases
28514297 Association of single-nucleotide polymorphisms in toll-like receptor 2 gene with asthma susceptibility: A meta-analysis. Gao Y et al. 2017 Medicine
28518213 Relationship between toll-like receptor 2 R753Q and T16934A polymorphisms and Staphylococcus aureus nasal carriage. Żukowski M et al. 2017 Anaesthesiology intensive therapy
29320990 Correlation between polymorphisms in toll-like receptor genes and the activity of hepatitis B virus among treatment-naïve patients: a case-control study in a Han Chinese population. Lin Y et al. 2018 BMC infectious diseases
29675696 Association of Toll like receptor 2 and 9 gene variants with pulmonary tuberculosis: exploration in a northern Indian population. Mittal M et al. 2018 Molecular biology reports
29805910 Genetic Diversity of IFγ, IL1β, TLR2, and TLR8 Loci in Pulmonary Tuberculosis in Kazakhstan. Yerezhepov D et al. 2014 Central Asian journal of global health
29854884 Arg753gln and Arg677 Trp Polymorphisms of Toll-Like Receptor 2 In Acute Apical Abscess. Miri-Moghaddam E et al. 2018 Journal of dentistry (Shiraz, Iran)
29909409 The Possible Role of Gene Variant Coding Nonfunctional Toll-Like Receptor 2 in the Pathogenesis of Mastocytosis. Nedoszytko B et al. 2018 International archives of allergy and immunology
30481307 Polymorphisms in TLR4 and TNFA and Risk of Mycobacterium tuberculosis Infection and Development of Active Disease in Contacts of Tuberculosis Cases in Brazil: A Prospective Cohort Study. Cubillos-Angulo JM et al. 2019 Clinical infectious diseases
31396258 Host Genetics of Cytomegalovirus Pathogenesis. Sezgin E et al. 2019 Frontiers in genetics
31656159 Arg753Gln Polymorphisms in the Toll-Like Receptor 2 Gene are Associated with Cytomegalovirus Infection in Egyptian Bone Marrow Recipients. El-Nabi SH et al. 2020 Endocrine, metabolic & immune disorders drug targets
31710083 -196 to -174del, rs4696480, rs3804099 polymorphisms of Toll-like receptor 2 gene impact the susceptibility of cancers: evidence from 37053 subjects. Gao SL et al. 2019 Bioscience reports
31781672 Genetic Polymorphisms of <i>Toll-like receptors 2</i> and <i>9</i> as Susceptibility Factors for the Development of Ankylosing Spondylitis and Psoriatic Arthritis. Oliveira-Toré CF et al. 2019 Journal of immunology research
31845221 Dectin-1 rs3901533 and rs7309123 Polymorphisms Increase Susceptibility to Pulmonary Invasive Fungal Disease in Patients with Acute Myeloid Leukemia from a Chinese Han Population. Chen MJ et al. 2019 Current medical science
31856358 Toll-like receptor 10 rs4129009 gene polymorphism is associated with post-bronchiolitis lung function in adolescence. Riikonen R et al. 2020 Acta paediatrica (Oslo, Norway
32421725 Association between single nucleotide polymorphisms (SNPs) of IL1, IL12, IL28 and TLR4 and symptoms of congenital cytomegalovirus infection. Jedlińska-Pijanowska D et al. 2020 PloS one
32753695 TLR4 896A/G and TLR9 1174G/A polymorphisms are associated with the risk of infectious mononucleosis. Jabłońska A et al. 2020 Scientific reports
32831974 Association of TLR-2 Gene Polymorphisms with the Risk of Periodontitis: A Meta-Analysis. Shan C et al. 2020 Disease markers
33077622 The Arg753Gln Polymorphism of Toll-Like Receptor 2 Has a Lower Occurrence in Patients with Syphilis, Suggesting Its Protective Effect in Czech and Slovak Individuals. Grillová L et al. 2020 Infection and immunity
33350746 Association of toll-like receptor polymorphisms with acquisition of HIV infection and clinical findings: A protocol for systematic review and meta-analysis. Shi H et al. 2020 Medicine
33512737 A case-control study examining the association of smad7 and TLR single nucleotide polymorphisms on the risk of colorectal cancer in ulcerative colitis. Reilly F et al. 2021 Colorectal disease
33656306 Association between single nucleotide polymorphisms and viral load in congenital cytomegalovirus infection. Jedlińska-Pijanowska D et al. 2021 Journal of mother and child
Help

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

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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.
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