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.
rs179008
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chrX:12885540 (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>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.177022 (46856/264690, TOPMED)T=0.177701 (31777/178823, GnomAD_exome)T=0.185659 (19232/103588, GnomAD) (+ 14 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- TLR7 : Missense Variant
- Publications
- 51 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: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 92906 | A=0.80022 | T=0.19978 | 0.714959 | 0.114524 | 0.170516 | 32 |
| European | Sub | 79870 | A=0.78606 | T=0.21394 | 0.695004 | 0.122875 | 0.182121 | 32 |
| African | Sub | 4302 | A=0.8629 | T=0.1371 | 0.796839 | 0.07113 | 0.132032 | 32 |
| African Others | Sub | 174 | A=0.851 | T=0.149 | 0.793103 | 0.091954 | 0.114943 | 14 |
| African American | Sub | 4128 | A=0.8634 | T=0.1366 | 0.796996 | 0.070252 | 0.132752 | 32 |
| Asian | Sub | 3326 | A=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 2672 | A=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 654 | A=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 436 | A=0.828 | T=0.172 | 0.752294 | 0.09633 | 0.151376 | 26 |
| Latin American 2 | Sub | 928 | A=0.816 | T=0.184 | 0.724138 | 0.092672 | 0.18319 | 32 |
| South Asian | Sub | 274 | A=0.938 | T=0.062 | 0.912409 | 0.036496 | 0.051095 | 23 |
| Other | Sub | 3770 | A=0.8353 | T=0.1647 | 0.771883 | 0.101326 | 0.12679 | 32 |
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 | A=0.822978 | T=0.177022 |
| gnomAD - Exomes | Global | Study-wide | 178823 | A=0.822299 | T=0.177701 |
| gnomAD - Exomes | European | Sub | 95773 | A=0.77459 | T=0.22541 |
| gnomAD - Exomes | Asian | Sub | 31567 | A=0.95679 | T=0.04321 |
| gnomAD - Exomes | American | Sub | 26837 | A=0.81101 | T=0.18899 |
| gnomAD - Exomes | African | Sub | 13108 | A=0.87115 | T=0.12885 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 7116 | A=0.8294 | T=0.1706 |
| gnomAD - Exomes | Other | Sub | 4422 | A=0.8078 | T=0.1922 |
| gnomAD - Genomes | Global | Study-wide | 103588 | A=0.814341 | T=0.185659 |
| gnomAD - Genomes | European | Sub | 56756 | A=0.77854 | T=0.22146 |
| gnomAD - Genomes | African | Sub | 31243 | A=0.87159 | T=0.12841 |
| gnomAD - Genomes | American | Sub | 9270 | A=0.7900 | T=0.2100 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 2513 | A=0.8317 | T=0.1683 |
| gnomAD - Genomes | East Asian | Sub | 2234 | A=0.9996 | T=0.0004 |
| gnomAD - Genomes | Other | Sub | 1572 | A=0.8219 | T=0.1781 |
| Allele Frequency Aggregator | Total | Global | 92906 | A=0.80022 | T=0.19978 |
| Allele Frequency Aggregator | European | Sub | 79870 | A=0.78606 | T=0.21394 |
| Allele Frequency Aggregator | African | Sub | 4302 | A=0.8629 | T=0.1371 |
| Allele Frequency Aggregator | Other | Sub | 3770 | A=0.8353 | T=0.1647 |
| Allele Frequency Aggregator | Asian | Sub | 3326 | A=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 928 | A=0.816 | T=0.184 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 436 | A=0.828 | T=0.172 |
| Allele Frequency Aggregator | South Asian | Sub | 274 | A=0.938 | T=0.062 |
| ExAC | Global | Study-wide | 84503 | A=0.81992 | T=0.18008 |
| ExAC | Europe | Sub | 51865 | A=0.77598 | T=0.22402 |
| ExAC | Asian | Sub | 14324 | A=0.95113 | T=0.04887 |
| ExAC | American | Sub | 9277 | A=0.8218 | T=0.1782 |
| ExAC | African | Sub | 8430 | A=0.8671 | T=0.1329 |
| ExAC | Other | Sub | 607 | A=0.794 | T=0.206 |
| GO Exome Sequencing Project | Global | Study-wide | 10563 | A=0.81539 | T=0.18461 |
| GO Exome Sequencing Project | European American | Sub | 6728 | A=0.7876 | T=0.2124 |
| GO Exome Sequencing Project | African American | Sub | 3835 | A=0.8641 | T=0.1359 |
| 1000Genomes_30x | Global | Study-wide | 4805 | A=0.8807 | T=0.1193 |
| 1000Genomes_30x | African | Sub | 1328 | A=0.8810 | T=0.1190 |
| 1000Genomes_30x | Europe | Sub | 961 | A=0.779 | T=0.221 |
| 1000Genomes_30x | South Asian | Sub | 883 | A=0.947 | T=0.053 |
| 1000Genomes_30x | East Asian | Sub | 878 | A=1.000 | T=0.000 |
| 1000Genomes_30x | American | Sub | 755 | A=0.793 | T=0.207 |
| 1000Genomes | Global | Study-wide | 3775 | A=0.8819 | T=0.1181 |
| 1000Genomes | African | Sub | 1003 | A=0.8804 | T=0.1196 |
| 1000Genomes | Europe | Sub | 766 | A=0.769 | T=0.231 |
| 1000Genomes | East Asian | Sub | 764 | A=1.000 | T=0.000 |
| 1000Genomes | South Asian | Sub | 718 | A=0.947 | T=0.053 |
| 1000Genomes | American | Sub | 524 | A=0.788 | T=0.212 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.7826 | T=0.2174 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 2889 | A=0.7930 | T=0.2070 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.764 | T=0.236 |
| HapMap | Global | Study-wide | 328 | A=0.869 | T=0.131 |
| HapMap | African | Sub | 120 | A=0.808 | T=0.192 |
| HapMap | American | Sub | 120 | A=0.833 | T=0.167 |
| HapMap | Asian | Sub | 88 | A=1.00 | T=0.00 |
| Qatari | Global | Study-wide | 108 | A=0.907 | T=0.093 |
| SGDP_PRJ | Global | Study-wide | 70 | A=0.33 | T=0.67 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 48 | A=1.00 | T=0.00 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.72 | T=0.28 |
| Siberian | Global | Study-wide | 12 | A=0.25 | T=0.75 |
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 X | NC_000023.11:g.12885540A>C |
| GRCh38.p14 chr X | NC_000023.11:g.12885540A>T |
| GRCh37.p13 chr X | NC_000023.10:g.12903659A>C |
| GRCh37.p13 chr X | NC_000023.10:g.12903659A>T |
| TLR7 RefSeqGene | NG_012569.1:g.23458A>C |
| TLR7 RefSeqGene | NG_012569.1:g.23458A>T |
Gene: TLR7, toll like receptor 7
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TLR7 transcript | NM_016562.4:c.32A>C | Q [CAA] > P [CCA] | Coding Sequence Variant |
| toll-like receptor 7 precursor | NP_057646.1:p.Gln11Pro | Q (Gln) > P (Pro) | Missense Variant |
| TLR7 transcript | NM_016562.4:c.32A>T | Q [CAA] > L [CTA] | Coding Sequence Variant |
| toll-like receptor 7 precursor | NP_057646.1:p.Gln11Leu | 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.
Not Reported in ClinVar
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 | T |
|---|---|---|---|
| GRCh38.p14 chr X | NC_000023.11:g.12885540= | NC_000023.11:g.12885540A>C | NC_000023.11:g.12885540A>T |
| GRCh37.p13 chr X | NC_000023.10:g.12903659= | NC_000023.10:g.12903659A>C | NC_000023.10:g.12903659A>T |
| TLR7 RefSeqGene | NG_012569.1:g.23458= | NG_012569.1:g.23458A>C | NG_012569.1:g.23458A>T |
| TLR7 transcript | NM_016562.4:c.32= | NM_016562.4:c.32A>C | NM_016562.4:c.32A>T |
| TLR7 transcript | NM_016562.3:c.32= | NM_016562.3:c.32A>C | NM_016562.3:c.32A>T |
| toll-like receptor 7 precursor | NP_057646.1:p.Gln11= | NP_057646.1:p.Gln11Pro | NP_057646.1:p.Gln11Leu |
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#.
100 SubSNP,
17 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | KWOK | ss238057 | Jul 12, 2000 (79) |
| 2 | SC_JCM | ss802490 | Aug 11, 2000 (85) |
| 3 | KWOK | ss1270926 | Oct 04, 2000 (86) |
| 4 | TSC-CSHL | ss5468152 | Oct 08, 2002 (108) |
| 5 | IIPGA-WEISS-MARTINEZ | ss7987787 | Apr 21, 2003 (114) |
| 6 | PERLEGEN | ss24728067 | Sep 20, 2004 (123) |
| 7 | SEQUENOM | ss24803419 | Sep 20, 2004 (123) |
| 8 | APPLERA_GI | ss48408941 | Mar 13, 2006 (126) |
| 9 | ILLUMINA | ss65725849 | Oct 14, 2006 (127) |
| 10 | PERLEGEN | ss69258067 | May 16, 2007 (127) |
| 11 | CGM_KYOTO | ss76868362 | Dec 06, 2007 (129) |
| 12 | SI_EXO | ss76890236 | Dec 06, 2007 (129) |
| 13 | HGSV | ss78450611 | Dec 06, 2007 (129) |
| 14 | CNG | ss86353284 | Mar 23, 2008 (129) |
| 15 | SEATTLESEQ | ss159745134 | Dec 01, 2009 (131) |
| 16 | ILLUMINA | ss160461763 | Dec 01, 2009 (131) |
| 17 | BUSHMAN | ss204160979 | Jul 04, 2010 (132) |
| 18 | 1000GENOMES | ss212154456 | Jul 14, 2010 (132) |
| 19 | ILLUMINA | ss244284906 | Jul 04, 2010 (132) |
| 20 | 1000GENOMES | ss341317862 | May 09, 2011 (134) |
| 21 | NHLBI-ESP | ss342549766 | May 09, 2011 (134) |
| 22 | ILLUMINA | ss481062895 | Sep 08, 2015 (146) |
| 23 | ILLUMINA | ss482607442 | May 04, 2012 (137) |
| 24 | ILLUMINA | ss484344089 | May 04, 2012 (137) |
| 25 | 1000GENOMES | ss491198033 | May 04, 2012 (137) |
| 26 | GSK-GENETICS | ss491282668 | May 04, 2012 (137) |
| 27 | EXOME_CHIP | ss491575108 | May 04, 2012 (137) |
| 28 | CLINSEQ_SNP | ss491948797 | May 04, 2012 (137) |
| 29 | ILLUMINA | ss535313640 | Sep 08, 2015 (146) |
| 30 | TISHKOFF | ss566771262 | Apr 25, 2013 (138) |
| 31 | ILLUMINA | ss779492115 | Aug 21, 2014 (142) |
| 32 | ILLUMINA | ss780764900 | Aug 21, 2014 (142) |
| 33 | ILLUMINA | ss781817590 | Aug 21, 2014 (142) |
| 34 | ILLUMINA | ss783444185 | Aug 21, 2014 (142) |
| 35 | ILLUMINA | ss834962249 | Aug 21, 2014 (142) |
| 36 | JMKIDD_LAB | ss1067609017 | Aug 21, 2014 (142) |
| 37 | JMKIDD_LAB | ss1082798935 | Aug 21, 2014 (142) |
| 38 | 1000GENOMES | ss1553566009 | Apr 01, 2015 (144) |
| 39 | EVA_GENOME_DK | ss1583331423 | Apr 01, 2015 (144) |
| 40 | EVA_UK10K_ALSPAC | ss1640357295 | Apr 01, 2015 (144) |
| 41 | EVA_UK10K_TWINSUK | ss1683351328 | Apr 01, 2015 (144) |
| 42 | EVA_EXAC | ss1694458747 | Apr 01, 2015 (144) |
| 43 | EVA_MGP | ss1711577509 | Apr 01, 2015 (144) |
| 44 | ILLUMINA | ss1752796249 | Sep 08, 2015 (146) |
| 45 | ILLUMINA | ss1917716028 | Feb 12, 2016 (147) |
| 46 | WEILL_CORNELL_DGM | ss1939156296 | Feb 12, 2016 (147) |
| 47 | ILLUMINA | ss1945968366 | Feb 12, 2016 (147) |
| 48 | ILLUMINA | ss1958173488 | Feb 12, 2016 (147) |
| 49 | GENOMED | ss1971345606 | Jul 19, 2016 (147) |
| 50 | ILLUMINA | ss2095001507 | Dec 20, 2016 (150) |
| 51 | ILLUMINA | ss2095227340 | Dec 20, 2016 (150) |
| 52 | USC_VALOUEV | ss2158955833 | Dec 20, 2016 (150) |
| 53 | HUMAN_LONGEVITY | ss2315776928 | Dec 20, 2016 (150) |
| 54 | ILLUMINA | ss2634940288 | Nov 08, 2017 (151) |
| 55 | ILLUMINA | ss2635201197 | Nov 08, 2017 (151) |
| 56 | GNOMAD | ss2745308291 | Nov 08, 2017 (151) |
| 57 | GNOMAD | ss2746078039 | Nov 08, 2017 (151) |
| 58 | GNOMAD | ss2976627178 | Nov 08, 2017 (151) |
| 59 | AFFY | ss2985480937 | Nov 08, 2017 (151) |
| 60 | SWEGEN | ss3019651415 | Nov 08, 2017 (151) |
| 61 | ILLUMINA | ss3022990797 | Nov 08, 2017 (151) |
| 62 | BIOINF_KMB_FNS_UNIBA | ss3029009315 | Nov 08, 2017 (151) |
| 63 | NARIIMMUNO_NAWAJ | ss3625488197 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3630398649 | Oct 12, 2018 (152) |
| 65 | ILLUMINA | ss3630398650 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3632827461 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3635242480 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3636990461 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3640949962 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3645008582 | Oct 12, 2018 (152) |
| 71 | OMUKHERJEE_ADBS | ss3646571084 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3653548985 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3653548986 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3654247213 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3726663797 | Jul 13, 2019 (153) |
| 76 | ILLUMINA | ss3744597411 | Jul 13, 2019 (153) |
| 77 | ILLUMINA | ss3745542906 | Jul 13, 2019 (153) |
| 78 | EVA | ss3769931804 | Jul 13, 2019 (153) |
| 79 | ILLUMINA | ss3773034620 | Jul 13, 2019 (153) |
| 80 | KHV_HUMAN_GENOMES | ss3822782192 | Jul 13, 2019 (153) |
| 81 | EVA | ss3825472930 | Apr 27, 2020 (154) |
| 82 | EVA | ss3836097452 | Apr 27, 2020 (154) |
| 83 | SGDP_PRJ | ss3891025966 | Apr 27, 2020 (154) |
| 84 | FSA-LAB | ss3984438596 | Apr 27, 2021 (155) |
| 85 | EVA | ss3984763470 | Apr 27, 2021 (155) |
| 86 | EVA | ss3986873351 | Apr 27, 2021 (155) |
| 87 | TOPMED | ss5115896519 | Apr 27, 2021 (155) |
| 88 | EVA | ss5237055477 | Apr 27, 2021 (155) |
| 89 | 1000G_HIGH_COVERAGE | ss5311845190 | Oct 16, 2022 (156) |
| 90 | EVA | ss5316072971 | Oct 16, 2022 (156) |
| 91 | HUGCELL_USP | ss5503590090 | Oct 16, 2022 (156) |
| 92 | 1000G_HIGH_COVERAGE | ss5619698139 | Oct 16, 2022 (156) |
| 93 | SANFORD_IMAGENETICS | ss5664895373 | Oct 16, 2022 (156) |
| 94 | EVA | ss5800238034 | Oct 16, 2022 (156) |
| 95 | EVA | ss5848227991 | Oct 16, 2022 (156) |
| 96 | EVA | ss5848739232 | Oct 16, 2022 (156) |
| 97 | EVA | ss5936581206 | Oct 16, 2022 (156) |
| 98 | EVA | ss5977852659 | Oct 16, 2022 (156) |
| 99 | EVA | ss5981149170 | Oct 16, 2022 (156) |
| 100 | EVA | ss5981323775 | Oct 16, 2022 (156) |
| 101 | 1000Genomes | NC_000023.10 - 12903659 | Oct 12, 2018 (152) |
| 102 | 1000Genomes_30x | NC_000023.11 - 12885540 | Oct 16, 2022 (156) |
| 103 | The Avon Longitudinal Study of Parents and Children | NC_000023.10 - 12903659 | Oct 12, 2018 (152) |
| 104 | ExAC | NC_000023.10 - 12903659 | Oct 12, 2018 (152) |
| 105 | The Danish reference pan genome | NC_000023.10 - 12903659 | Apr 27, 2020 (154) |
| 106 | gnomAD - Genomes | NC_000023.11 - 12885540 | Apr 27, 2021 (155) |
| 107 | gnomAD - Exomes | NC_000023.10 - 12903659 | Jul 13, 2019 (153) |
| 108 | GO Exome Sequencing Project | NC_000023.10 - 12903659 | Oct 12, 2018 (152) |
| 109 | HapMap | NC_000023.11 - 12885540 | Apr 27, 2020 (154) |
| 110 | Medical Genome Project healthy controls from Spanish population | NC_000023.10 - 12903659 | Apr 27, 2020 (154) |
| 111 | Qatari | NC_000023.10 - 12903659 | Apr 27, 2020 (154) |
| 112 | SGDP_PRJ | NC_000023.10 - 12903659 | Apr 27, 2020 (154) |
| 113 | Siberian | NC_000023.10 - 12903659 | Apr 27, 2020 (154) |
| 114 | TopMed | NC_000023.11 - 12885540 | Apr 27, 2021 (155) |
| 115 | UK 10K study - Twins | NC_000023.10 - 12903659 | Oct 12, 2018 (152) |
| 116 | A Vietnamese Genetic Variation Database | NC_000023.10 - 12903659 | Jul 13, 2019 (153) |
| 117 | ALFA | NC_000023.11 - 12885540 | Apr 27, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs629938 | Sep 19, 2000 (85) |
| rs17256060 | Oct 07, 2004 (123) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss78450611 | NC_000023.8:12663315:A:C | NC_000023.11:12885539:A:C | (self) |
| ss204160979, ss212154456, ss484344089, ss491282668, ss491948797, ss2095001507, ss2635201197 | NC_000023.9:12813579:A:T | NC_000023.11:12885539:A:T | (self) |
| 81549628, 45049207, 9955933, 9496360, 14644727, 1929733, 693269, 21198218, 43042946, 11472187, 45049207, 9940650, ss341317862, ss342549766, ss481062895, ss482607442, ss491198033, ss491575108, ss535313640, ss566771262, ss779492115, ss780764900, ss781817590, ss783444185, ss834962249, ss1067609017, ss1082798935, ss1553566009, ss1583331423, ss1640357295, ss1683351328, ss1694458747, ss1711577509, ss1752796249, ss1917716028, ss1939156296, ss1945968366, ss1958173488, ss1971345606, ss2095227340, ss2158955833, ss2634940288, ss2745308291, ss2746078039, ss2976627178, ss2985480937, ss3019651415, ss3022990797, ss3630398649, ss3630398650, ss3632827461, ss3635242480, ss3636990461, ss3640949962, ss3645008582, ss3646571084, ss3653548985, ss3653548986, ss3654247213, ss3744597411, ss3745542906, ss3769931804, ss3773034620, ss3825472930, ss3836097452, ss3891025966, ss3984438596, ss3984763470, ss3986873351, ss5316072971, ss5664895373, ss5800238034, ss5848227991, ss5848739232, ss5936581206, ss5977852659, ss5981149170, ss5981323775 | NC_000023.10:12903658:A:T | NC_000023.11:12885539:A:T | (self) |
| 107224074, 575517725, 3949405, 679502876, 11396626195, ss2315776928, ss3029009315, ss3625488197, ss3726663797, ss3822782192, ss5115896519, ss5237055477, ss5311845190, ss5503590090, ss5619698139 | NC_000023.11:12885539:A:T | NC_000023.11:12885539:A:T | (self) |
| ss76890236 | NT_011757.15:10685341:A:T | NC_000023.11:12885539:A:T | (self) |
| ss238057, ss802490, ss1270926, ss5468152, ss7987787, ss24728067, ss24803419, ss48408941, ss65725849, ss69258067, ss76868362, ss86353284, ss159745134, ss160461763, ss244284906 | NT_167197.1:10785420:A:T | NC_000023.11:12885539: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.
51
citations for rs179008
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18385087 | Toll-like receptor polymorphisms and age-related macular degeneration. | Edwards AO et al. | 2008 | Investigative ophthalmology & visual science |
| 18682521 | Association analysis identifies TLR7 and TLR8 as novel risk genes in asthma and related disorders. | Møller-Larsen S et al. | 2008 | Thorax |
| 19473567 | Investigation of TLR5 and TLR7 as candidate genes for susceptibility to systemic lupus erythematosus. | Sánchez E et al. | 2009 | Clinical and experimental rheumatology |
| 19505919 | Toll-like receptor signaling pathway variants and prostate cancer mortality. | Stark JR et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 20456414 | Nucleic acid sensing receptors in systemic lupus erythematosus: development of novel DNA- and/or RNA-like analogues for treating lupus. | Lenert P et al. | 2010 | Clinical and experimental immunology |
| 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) |
| 20872712 | Toll-like receptor 7 rs179008/Gln11Leu gene variants in chronic hepatitis C virus infection. | Askar E et al. | 2010 | Journal of medical virology |
| 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 |
| 21297422 | Polymorphisms in interferon regulatory factor 7 reduce interferon-α responses of plasmacytoid dendritic cells to HIV-1. | Chang J et al. | 2011 | AIDS (London, England) |
| 21872627 | Association of polymorphisms in TLR genes and in genes of the Toll-like receptor signaling pathway with cancer risk. | Kutikhin AG et al. | 2011 | Human immunology |
| 22022576 | TLR7 and TLR8 gene variations and susceptibility to hepatitis C virus infection. | Wang CH et al. | 2011 | PloS one |
| 22065095 | TLR7/8/9 polymorphisms and their associations in systemic lupus erythematosus patients from southern Brazil. | dos Santos BP et al. | 2012 | Lupus |
| 22414065 | Polymorphisms in Toll-like receptor genes influence antibody responses to cytomegalovirus glycoprotein B vaccine. | Arav-Boger R et al. | 2012 | BMC research notes |
| 22857391 | Toll-like receptor gene polymorphisms are associated with allergic rhinitis: a case control study. | Nilsson D et al. | 2012 | BMC medical genetics |
| 23227085 | Genetics of SLE: functional relevance for monocytes/macrophages in disease. | Byrne JC et al. | 2012 | Clinical & developmental immunology |
| 23776356 | Allergic rhinitis and genetic components: focus on Toll-like receptors (TLRs) gene polymorphism. | Gao Z et al. | 2010 | The application of clinical genetics |
| 24176007 | Potential association of pulmonary tuberculosis with genetic polymorphisms of toll-like receptor 9 and interferon-gamma in a Chinese population. | Yang Y et al. | 2013 | BMC infectious diseases |
| 24281113 | Inflammatory genetic markers of prostate cancer risk. | Tindall EA et al. | 2010 | Cancers |
| 24532514 | Single nucleotide polymorphisms of toll-like receptor 7 and toll-like receptor 9 in hepatitis C virus infection patients from central China. | Wei XS et al. | 2014 | Yonsei medical journal |
| 24653663 | Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations. | J de AS et al. | 2014 | Current genomics |
| 25560985 | Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious diseases. | Skevaki C et al. | 2015 | Clinical and experimental immunology |
| 25633712 | Resiquimod as an immunologic adjuvant for NY-ESO-1 protein vaccination in patients with high-risk melanoma. | Sabado RL et al. | 2015 | Cancer immunology research |
| 26556041 | TLR7 Gln11Leu single nucleotide polymorphism and response to treatment with imiquimod in patients with basal cell carcinoma: a pilot study. | Piaserico S et al. | 2015 | Pharmacogenomics |
| 26680101 | Genotypic distribution of common variants of endosomal toll like receptors in healthy Spanish women. A comparative study with other populations. | Martínez-Robles E et al. | 2016 | Gene |
| 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 |
| 26762473 | Association between toll-like receptor polymorphisms and systemic lupus erythematosus: a meta-analysis update. | Lee YH et al. | 2016 | Lupus |
| 26784926 | Molecular Determinants of GS-9620-Dependent TLR7 Activation. | Rebbapragada I et al. | 2016 | PloS one |
| 27498757 | Post-bronchiolitis wheezing is associated with toll-like receptor 9 rs187084 gene polymorphism. | Nuolivirta K et al. | 2016 | Scientific reports |
| 28046022 | Association of TLR3 L412F Polymorphism with Cytomegalovirus Infection in Children. | Studzińska M et al. | 2017 | PloS one |
| 28062211 | Endosomal toll-like receptor gene polymorphisms and susceptibility to HIV and HCV co-infection - Differential influence in individuals with distinct ethnic background. | Valverde-Villegas JM et al. | 2017 | Human immunology |
| 28592890 | Polymorphism in the gene encoding toll-like receptor 10 may be associated with asthma after bronchiolitis. | Törmänen S et al. | 2017 | Scientific reports |
| 28752959 | Genetic variations in toll-like receptors 7 and 8 modulate natural hepatitis C outcomes and liver disease progression. | Fakhir FZ et al. | 2018 | Liver international |
| 29267374 | Association of toll-like receptors polymorphism and intrauterine transmission of cytomegalovirus. | Eldar-Yedidia Y et al. | 2017 | PloS one |
| 29947302 | The association of single nucleotide polymorphisms of Toll-like receptor 3, Toll-like receptor 7 and Toll-like receptor 8 genes with the susceptibility to HCV infection. | El-Bendary M et al. | 2018 | British journal of biomedical science |
| 29964062 | TLR7 polymorphism, sex and chronic HBV infection influence plasmacytoid DC maturation by TLR7 ligands. | Buschow SI et al. | 2018 | Antiviral research |
| 30321082 | Association between Toll-Like Receptor 3 (TLR3) rs3775290, TLR7 rs179008, TLR9 rs352140 and Chronic HCV. | Mosaad YM et al. | 2019 | Immunological investigations |
| 30793925 | Polymorphisms in Toll-Like Receptors (TLRs)-7 and 9 Genes in Indian Population with Progressive and Nonprogressive HIV-1 Infection. | Shaikh N et al. | 2019 | AIDS research and human retroviruses |
| 31481269 | Contribution of Toll like receptor polymorphisms to dengue susceptibility and clinical outcome among eastern Indian patients. | Mukherjee S et al. | 2019 | Immunobiology |
| 32450795 | Genetic variation in toll like receptors 2, 7, 9 and interleukin-6 is associated with cytomegalovirus infection in late pregnancy. | Mhandire DZ et al. | 2020 | BMC medical genetics |
| 32554924 | TLR7 dosage polymorphism shapes interferogenesis and HIV-1 acute viremia in women. | Azar P et al. | 2020 | JCI insight |
| 32565728 | TLR7 Polymorphism (rs179008 and rs179009) in HIV-Infected Individual Naïve to ART. | Singh H et al. | 2020 | Mediators of inflammation |
| 33138336 | Association of Genetic Polymorphisms in TLR3, TLR4, TLR7, and TLR8 with the Clinical Forms of Dengue in Patients from Veracruz, Mexico. | Posadas-Mondragón A et al. | 2020 | Viruses |
| 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 |
| 33495940 | Differential genotypic signatures of Toll-like receptor polymorphisms among dengue-chikungunya mono- and co-infected Eastern Indian patients. | Sengupta S et al. | 2021 | European journal of clinical microbiology & infectious diseases |
| 34102513 | Impact of TLR7 and TLR9 polymorphisms on susceptibility to placental infections and pregnancy complications. | Sánchez-Luquez K et al. | 2021 | Journal of reproductive immunology |
| 34113509 | Study of Single Nucleotide Polymorphisms in Endosomal Toll-Like Receptors-3, 7, and 9 Genes in Patients With Dengue: A Case-Control Study. | Singh AK et al. | 2021 | Cureus |
| 34512664 | Sex Differences in Primary HIV Infection: Revisiting the Role of TLR7-Driven Type 1 IFN Production by Plasmacytoid Dendritic Cells in Women. | Guéry JC et al. | 2021 | Frontiers in immunology |
| 34740476 | TLR genetic variation is associated with Rotavirus-specific IgA seroconversion in South African Black infants after two doses of Rotarix vaccine. | Miya TV et al. | 2021 | Vaccine |
| 35063671 | Prognostic impact of toll-like receptors gene polymorphism on outcome of COVID-19 pneumonia: A case-control study. | Alseoudy MM et al. | 2022 | Clinical immunology (Orlando, Fla.) |
| 35327350 | The Role of Genetic Factors in the Development of Acute Respiratory Viral Infection COVID-19: Predicting Severe Course and Outcomes. | Minashkin MM et al. | 2022 | Biomedicines |
| 36016941 | Polygenic Innate Immunity Score to Predict the Risk of Cytomegalovirus Infection in CMV D+/R- Transplant Recipients. A Prospective Multicenter Cohort Study. | Bodro M et al. | 2022 | Frontiers in immunology |
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
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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.