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.
rs28362491
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr4:102500998-102501005 (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
- delATTG / dupATTG
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
delATTG=0.439386 (116301/264690, TOPMED)delATTG=0.433584 (60589/139740, GnomAD)delATTG=0.46413 (36099/77778, PAGE_STUDY) (+ 10 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
NFKB1 : 2KB Upstream VariantLOC105377621 : Intron Variant
- Publications
- 116 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 18520 | ATTGATTG=0.58353 | ATTG=0.41647 |
| European | Sub | 14152 | ATTGATTG=0.60218 | ATTG=0.39782 |
| African | Sub | 2898 | ATTGATTG=0.5031 | ATTG=0.4969 |
| African Others | Sub | 114 | ATTGATTG=0.474 | ATTG=0.526 |
| African American | Sub | 2784 | ATTGATTG=0.5043 | ATTG=0.4957 |
| Asian | Sub | 112 | ATTGATTG=0.643 | ATTG=0.357 |
| East Asian | Sub | 86 | ATTGATTG=0.63 | ATTG=0.37 |
| Other Asian | Sub | 26 | ATTGATTG=0.69 | ATTG=0.31 |
| Latin American 1 | Sub | 146 | ATTGATTG=0.644 | ATTG=0.356 |
| Latin American 2 | Sub | 610 | ATTGATTG=0.452 | ATTG=0.548 |
| South Asian | Sub | 98 | ATTGATTG=0.80 | ATTG=0.20 |
| Other | Sub | 504 | ATTGATTG=0.609 | ATTG=0.391 |
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 | (ATTG)2=0.560614 | delATTG=0.439386 |
| gnomAD - Genomes | Global | Study-wide | 139740 | (ATTG)2=0.566416 | delATTG=0.433584 |
| gnomAD - Genomes | European | Sub | 75686 | (ATTG)2=0.60219 | delATTG=0.39781 |
| gnomAD - Genomes | African | Sub | 41856 | (ATTG)2=0.50829 | delATTG=0.49171 |
| gnomAD - Genomes | American | Sub | 13630 | (ATTG)2=0.51511 | delATTG=0.48489 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | (ATTG)2=0.6669 | delATTG=0.3331 |
| gnomAD - Genomes | East Asian | Sub | 3108 | (ATTG)2=0.5866 | delATTG=0.4134 |
| gnomAD - Genomes | Other | Sub | 2140 | (ATTG)2=0.5799 | delATTG=0.4201 |
| The PAGE Study | Global | Study-wide | 77778 | (ATTG)2=0.53587 | delATTG=0.46413 |
| The PAGE Study | AfricanAmerican | Sub | 31970 | (ATTG)2=0.51029 | delATTG=0.48971 |
| The PAGE Study | Mexican | Sub | 10734 | (ATTG)2=0.44103 | delATTG=0.55897 |
| The PAGE Study | Asian | Sub | 8236 | (ATTG)2=0.6203 | delATTG=0.3797 |
| The PAGE Study | PuertoRican | Sub | 7848 | (ATTG)2=0.5615 | delATTG=0.4385 |
| The PAGE Study | NativeHawaiian | Sub | 4482 | (ATTG)2=0.7115 | delATTG=0.2885 |
| The PAGE Study | Cuban | Sub | 4212 | (ATTG)2=0.5985 | delATTG=0.4015 |
| The PAGE Study | Dominican | Sub | 3796 | (ATTG)2=0.5606 | delATTG=0.4394 |
| The PAGE Study | CentralAmerican | Sub | 2444 | (ATTG)2=0.4153 | delATTG=0.5847 |
| The PAGE Study | SouthAmerican | Sub | 1962 | (ATTG)2=0.4939 | delATTG=0.5061 |
| The PAGE Study | NativeAmerican | Sub | 1254 | (ATTG)2=0.5574 | delATTG=0.4426 |
| The PAGE Study | SouthAsian | Sub | 840 | (ATTG)2=0.707 | delATTG=0.293 |
| 14KJPN | JAPANESE | Study-wide | 28258 | (ATTG)2=0.63670 | delATTG=0.36330 |
| Allele Frequency Aggregator | Total | Global | 18520 | (ATTG)2=0.58353 | delATTG=0.41647 |
| Allele Frequency Aggregator | European | Sub | 14152 | (ATTG)2=0.60218 | delATTG=0.39782 |
| Allele Frequency Aggregator | African | Sub | 2898 | (ATTG)2=0.5031 | delATTG=0.4969 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | (ATTG)2=0.452 | delATTG=0.548 |
| Allele Frequency Aggregator | Other | Sub | 504 | (ATTG)2=0.609 | delATTG=0.391 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | (ATTG)2=0.644 | delATTG=0.356 |
| Allele Frequency Aggregator | Asian | Sub | 112 | (ATTG)2=0.643 | delATTG=0.357 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | (ATTG)2=0.80 | delATTG=0.20 |
| 8.3KJPN | JAPANESE | Study-wide | 16758 | (ATTG)2=0.63838 | delATTG=0.36162 |
| 1000Genomes | Global | Study-wide | 5008 | (ATTG)2=0.5815 | delATTG=0.4185 |
| 1000Genomes | African | Sub | 1322 | (ATTG)2=0.4781 | delATTG=0.5219 |
| 1000Genomes | East Asian | Sub | 1008 | (ATTG)2=0.6181 | delATTG=0.3819 |
| 1000Genomes | Europe | Sub | 1006 | (ATTG)2=0.5954 | delATTG=0.4046 |
| 1000Genomes | South Asian | Sub | 978 | (ATTG)2=0.717 | delATTG=0.283 |
| 1000Genomes | American | Sub | 694 | (ATTG)2=0.514 | delATTG=0.486 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | (ATTG)2=0.5815 | delATTG=0.4185 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | (ATTG)2=0.5965 | delATTG=0.4035 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | (ATTG)2=0.5887 | delATTG=0.4113 |
| Northern Sweden | ACPOP | Study-wide | 600 | (ATTG)2=0.580 | delATTG=0.420 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 216 | (ATTG)2=0.569 | delATTG=0.431 |
| The Danish reference pan genome | Danish | Study-wide | 40 | (ATTG)2=0.65 | delATTG=0.35 |
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 4 | NC_000004.12:g.102500998ATTG[1] |
| GRCh38.p14 chr 4 | NC_000004.12:g.102500998ATTG[3] |
| GRCh37.p13 chr 4 | NC_000004.11:g.103422155ATTG[1] |
| GRCh37.p13 chr 4 | NC_000004.11:g.103422155ATTG[3] |
| NFKB1 RefSeqGene (LRG_1316) | NG_050628.1:g.4670ATTG[1] |
| NFKB1 RefSeqGene (LRG_1316) | NG_050628.1:g.4670ATTG[3] |
Gene: NFKB1, nuclear factor kappa B subunit 1
(plus strand)
:
2KB Upstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| NFKB1 transcript variant 2 | NM_001165412.2:c. | N/A | Upstream Transcript Variant |
| NFKB1 transcript variant 3 | NM_001319226.2:c. | N/A | Upstream Transcript Variant |
| NFKB1 transcript variant 4 | NM_001382625.1:c. | N/A | Upstream Transcript Variant |
| NFKB1 transcript variant 5 | NM_001382626.1:c. | N/A | Upstream Transcript Variant |
| NFKB1 transcript variant 6 | NM_001382627.1:c. | N/A | Upstream Transcript Variant |
| NFKB1 transcript variant 7 | NM_001382628.1:c. | N/A | Upstream Transcript Variant |
| NFKB1 transcript variant 1 | NM_003998.4:c. | N/A | Upstream Transcript Variant |
| NFKB1 transcript variant X3 | XM_024454069.2:c. | N/A | Upstream Transcript Variant |
| NFKB1 transcript variant X2 | XM_047415742.1:c. | N/A | Upstream Transcript Variant |
| NFKB1 transcript variant X1 | XM_024454068.1:c. | N/A | N/A |
| NFKB1 transcript variant X4 | XM_047415743.1:c. | N/A | N/A |
| NFKB1 transcript variant X5 | XM_047415744.1:c. | N/A | N/A |
Gene: LOC105377621, uncharacterized LOC105377621
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LOC105377621 transcript | NR_136202.1:n. | N/A | Intron 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 | (ATTG)2= | delATTG | dupATTG |
|---|---|---|---|
| GRCh38.p14 chr 4 | NC_000004.12:g.102500998_102501005= | NC_000004.12:g.102500998ATTG[1] | NC_000004.12:g.102500998ATTG[3] |
| GRCh37.p13 chr 4 | NC_000004.11:g.103422155_103422162= | NC_000004.11:g.103422155ATTG[1] | NC_000004.11:g.103422155ATTG[3] |
| NFKB1 RefSeqGene (LRG_1316) | NG_050628.1:g.4670_4677= | NG_050628.1:g.4670ATTG[1] | NG_050628.1:g.4670ATTG[3] |
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#.
57 SubSNP,
13 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | KYUGEN | ss35077361 | May 24, 2005 (125) |
| 2 | STEJUSTINE-REGGEN | ss51854358 | Mar 16, 2006 (126) |
| 3 | HGSV | ss81964562 | Sep 08, 2015 (146) |
| 4 | BCMHGSC_JDW | ss103693648 | Dec 06, 2013 (138) |
| 5 | BUSHMAN | ss193753025 | Jul 04, 2010 (132) |
| 6 | 1000GENOMES | ss326554775 | May 09, 2011 (135) |
| 7 | 1000GENOMES | ss326587909 | May 09, 2011 (135) |
| 8 | 1000GENOMES | ss326763876 | May 09, 2011 (135) |
| 9 | 1000GENOMES | ss498809347 | May 04, 2012 (137) |
| 10 | LUNTER | ss551396393 | Apr 25, 2013 (138) |
| 11 | LUNTER | ss551523886 | Apr 25, 2013 (138) |
| 12 | LUNTER | ss553152009 | Apr 25, 2013 (138) |
| 13 | TISHKOFF | ss554112028 | Apr 25, 2013 (138) |
| 14 | SSMP | ss663441446 | Apr 01, 2015 (144) |
| 15 | BILGI_BIOE | ss666271424 | Apr 25, 2013 (138) |
| 16 | EVA-GONL | ss980475447 | Aug 21, 2014 (142) |
| 17 | 1000GENOMES | ss1372568977 | Aug 21, 2014 (142) |
| 18 | DDI | ss1536420885 | Apr 01, 2015 (144) |
| 19 | EVA_GENOME_DK | ss1576300775 | Apr 01, 2015 (144) |
| 20 | EVA_DECODE | ss1589980153 | Apr 01, 2015 (144) |
| 21 | EVA_DECODE | ss1589980154 | Apr 01, 2015 (144) |
| 22 | EVA_UK10K_ALSPAC | ss1704286548 | Apr 01, 2015 (144) |
| 23 | EVA_UK10K_TWINSUK | ss1704286748 | Apr 01, 2015 (144) |
| 24 | HAMMER_LAB | ss1801941405 | Sep 08, 2015 (146) |
| 25 | ILLUMINA | ss1958708613 | Feb 12, 2016 (147) |
| 26 | JJLAB | ss2030619138 | Sep 14, 2016 (149) |
| 27 | ILLUMINA | ss2095147209 | Dec 20, 2016 (150) |
| 28 | SYSTEMSBIOZJU | ss2625720185 | Nov 08, 2017 (151) |
| 29 | GNOMAD | ss2813105384 | Nov 08, 2017 (151) |
| 30 | SWEGEN | ss2995247170 | Nov 08, 2017 (151) |
| 31 | ILLUMINA | ss3022400531 | Nov 08, 2017 (151) |
| 32 | MCHAISSO | ss3064115299 | Nov 08, 2017 (151) |
| 33 | MCHAISSO | ss3065966243 | Nov 08, 2017 (151) |
| 34 | BEROUKHIMLAB | ss3644161189 | Oct 12, 2018 (152) |
| 35 | BIOINF_KMB_FNS_UNIBA | ss3645815586 | Oct 12, 2018 (152) |
| 36 | ILLUMINA | ss3652887690 | Oct 12, 2018 (152) |
| 37 | ILLUMINA | ss3652887691 | Oct 12, 2018 (152) |
| 38 | EGCUT_WGS | ss3663145016 | Jul 13, 2019 (153) |
| 39 | EVA_DECODE | ss3712700942 | Jul 13, 2019 (153) |
| 40 | ACPOP | ss3731442298 | Jul 13, 2019 (153) |
| 41 | PAGE_CC | ss3771143888 | Jul 13, 2019 (153) |
| 42 | KHV_HUMAN_GENOMES | ss3805341106 | Jul 13, 2019 (153) |
| 43 | EVA | ss3828715526 | Apr 26, 2020 (154) |
| 44 | EVA | ss3837798964 | Apr 26, 2020 (154) |
| 45 | EVA | ss3843237490 | Apr 26, 2020 (154) |
| 46 | TOPMED | ss4625420440 | Apr 26, 2021 (155) |
| 47 | TOMMO_GENOMICS | ss5167172969 | Apr 26, 2021 (155) |
| 48 | 1000G_HIGH_COVERAGE | ss5260364240 | Oct 17, 2022 (156) |
| 49 | HUGCELL_USP | ss5458999459 | Oct 17, 2022 (156) |
| 50 | EVA | ss5507651651 | Oct 17, 2022 (156) |
| 51 | SANFORD_IMAGENETICS | ss5635710933 | Oct 17, 2022 (156) |
| 52 | TOMMO_GENOMICS | ss5701930869 | Oct 17, 2022 (156) |
| 53 | YY_MCH | ss5805372162 | Oct 17, 2022 (156) |
| 54 | EVA | ss5844454629 | Oct 17, 2022 (156) |
| 55 | EVA | ss5854365425 | Oct 17, 2022 (156) |
| 56 | EVA | ss5864764908 | Oct 17, 2022 (156) |
| 57 | EVA | ss5964104435 | Oct 17, 2022 (156) |
| 58 | 1000Genomes | NC_000004.11 - 103422155 | Oct 12, 2018 (152) |
| 59 | The Avon Longitudinal Study of Parents and Children | NC_000004.11 - 103422155 | Oct 12, 2018 (152) |
| 60 | Genetic variation in the Estonian population | NC_000004.11 - 103422155 | Oct 12, 2018 (152) |
| 61 | The Danish reference pan genome | NC_000004.11 - 103422155 | Apr 26, 2020 (154) |
| 62 | gnomAD - Genomes | NC_000004.12 - 102500998 | Apr 26, 2021 (155) |
| 63 | Northern Sweden | NC_000004.11 - 103422155 | Jul 13, 2019 (153) |
| 64 | The PAGE Study | NC_000004.12 - 102500998 | Jul 13, 2019 (153) |
| 65 | 8.3KJPN | NC_000004.11 - 103422155 | Apr 26, 2021 (155) |
| 66 | 14KJPN | NC_000004.12 - 102500998 | Oct 17, 2022 (156) |
| 67 | TopMed | NC_000004.12 - 102500998 | Apr 26, 2021 (155) |
| 68 | UK 10K study - Twins | NC_000004.11 - 103422155 | Oct 12, 2018 (152) |
| 69 | A Vietnamese Genetic Variation Database | NC_000004.11 - 103422155 | Jul 13, 2019 (153) |
| 70 | ALFA | NC_000004.12 - 102500998 | Apr 26, 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) |
|---|---|
| rs28720239 | Jan 15, 2013 (137) |
| rs36226653 | Oct 25, 2006 (127) |
| rs59554545 | Mar 05, 2008 (129) |
| rs145284614 | Sep 17, 2011 (135) |
| rs373434789 | May 15, 2013 (138) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss81964562 | NC_000004.9:103779345:ATTG: |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTG |
(self) |
| ss326554775, ss326587909, ss326763876, ss551396393, ss551523886, ss553152009, ss1589980153 | NC_000004.10:103641186:ATTG: |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTG |
(self) |
| ss1589980154 | NC_000004.10:103641187:TTGA: |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTG |
(self) |
| 22512650, 12526950, 8883264, 931489, 4727163, 25142276, 12526950, 2755400, ss498809347, ss663441446, ss666271424, ss980475447, ss1372568977, ss1536420885, ss1576300775, ss1704286548, ss1704286748, ss1801941405, ss1958708613, ss2030619138, ss2095147209, ss2625720185, ss2813105384, ss2995247170, ss3022400531, ss3644161189, ss3652887690, ss3652887691, ss3663145016, ss3731442298, ss3828715526, ss3837798964, ss5167172969, ss5635710933, ss5844454629, ss5964104435 | NC_000004.11:103422154:ATTG: |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTG |
(self) |
| ss554112028 | NC_000004.11:103422158:ATTG: |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTG |
(self) |
| 159478751, 365357, 35767973, 462797996, ss3064115299, ss3065966243, ss3645815586, ss3712700942, ss3771143888, ss3805341106, ss3843237490, ss4625420440, ss5260364240, ss5458999459, ss5701930869, ss5805372162, ss5854365425, ss5864764908 | NC_000004.12:102500997:ATTG: |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTG |
(self) |
| 7400285383 |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTG |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTG |
(self) |
| ss35077361, ss51854358 | NT_016354.19:27969875:ATTG: |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTG |
(self) |
| ss103693648 | NT_016354.19:27969879:ATTG: |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTG |
(self) |
| ss193753025 | NT_016354.20:43579616:ATTG: |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTG |
(self) |
| ss5507651651 | NC_000004.11:103422154::ATTG |
NC_000004.12:102500997:ATTGATTG:AT…
NC_000004.12:102500997:ATTGATTG:ATTGATTGATTG |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
116
citations for rs28362491
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 19480714 | Functional polymorphism of the NFKB1 gene promoter is related to the risk of dilated cardiomyopathy. | Zhou B et al. | 2009 | BMC medical genetics |
| 19734419 | A polymorphism in NFKB1 is associated with improved effect of interferon-{alpha} maintenance treatment of patients with multiple myeloma after high-dose treatment with stem cell support. | Vangsted AJ et al. | 2009 | Haematologica |
| 19892748 | Relationship between NFKB1 -94 insertion/deletion ATTG polymorphism and susceptibility of cervical squamous cell carcinoma risk. | Zhou B et al. | 2010 | Annals of oncology |
| 20836841 | Polymorphisms in NFkB, PXR, LXR and risk of colorectal cancer in a prospective study of Danes. | Andersen V et al. | 2010 | BMC cancer |
| 21245992 | Polymorphisms in NF-κB, PXR, LXR, PPARγ and risk of inflammatory bowel disease. | Andersen V et al. | 2011 | World journal of gastroenterology |
| 21333900 | The role of genetics in IBS. | Saito YA et al. | 2011 | Gastroenterology clinics of North America |
| 21918647 | Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver. | Klein K et al. | 2010 | Frontiers in pharmacology |
| 22479419 | Genome-wide association study of treatment refractory schizophrenia in Han Chinese. | Liou YJ et al. | 2012 | PloS one |
| 22614238 | NFKB1 polymorphism is associated with age-related gene methylation in Helicobacter pylori-infected subjects. | Arisawa T et al. | 2012 | International journal of molecular medicine |
| 22742565 | Germline prognostic markers for urinary bladder cancer: obstacles and opportunities. | Chang DW et al. | 2012 | Urologic oncology |
| 22742859 | NFKB1-94ATTG ins/del polymorphism (rs28362491) is associated with cardiovascular disease in patients with rheumatoid arthritis. | López-Mejías R et al. | 2012 | Atherosclerosis |
| 22768033 | Single nucleotide polymorphisms in IL1B and the risk of acute coronary syndrome: a Danish case-cohort study. | Stegger JG et al. | 2012 | PloS one |
| 22902396 | The nuclear factor-kB functional promoter polymorphism is associated with endometriosis and infertility. | Bianco B et al. | 2012 | Human immunology |
| 23077565 | Analysis of the interferon gamma (rs2430561, +874T/A) functional gene variant in relation to the presence of cardiovascular events in rheumatoid arthritis. | García-Bermúdez M et al. | 2012 | PloS one |
| 23293538 | The roles of beta-adrenergic receptors in tumorigenesis and the possible use of beta-adrenergic blockers for cancer treatment: possible genetic and cell-signaling mechanisms. | Quốc Lu'o'ng KV et al. | 2012 | Cancer management and research |
| 23299027 | The NFKB1 -94 ATTG insertion/deletion polymorphism (rs28362491) contributes to the susceptibility of congenital heart disease in a Chinese population. | Zhang D et al. | 2013 | Gene |
| 23357300 | Role of inflammatory gene polymorphisms in left ventricular dysfunction (LVD) susceptibility in coronary artery disease (CAD) patients. | Mishra A et al. | 2013 | Cytokine |
| 23389097 | The frequency of 4 common gene polymorphisms in nonagenarians, centenarians, and average life span individuals. | Kolovou G et al. | 2014 | Angiology |
| 23543433 | Gene polymorphisms and thyroid function in patients with heart failure. | Vasiliadis I et al. | 2014 | Endocrine |
| 23806437 | The functional -94 insertion/deletion ATTG polymorphism in the promoter region of NFKB1 gene increases the risk of sporadic colorectal cancer. | Mohd Suzairi MS et al. | 2013 | Cancer epidemiology |
| 23911423 | Genetic interaction between genes involved in NF-κB signaling pathway in systemic lupus erythematosus. | Cen H et al. | 2013 | Molecular immunology |
| 23946381 | Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. | Ma X et al. | 2014 | Gut |
| 23977225 | Low ABCB1 gene expression is an early event in colorectal carcinogenesis. | Andersen V et al. | 2013 | PloS one |
| 24101096 | Functional promoter polymorphisms of NFKB1 influence susceptibility to the diffuse type of gastric cancer. | Arisawa T et al. | 2013 | Oncology reports |
| 24818816 | -94 ATTG insertion/deletion polymorphism of the NFKB1 gene is associated with coronary artery disease in Han and Uygur women in China. | Yang YN et al. | 2014 | Genetic testing and molecular biomarkers |
| 24889212 | Systematic review: interactions between aspirin, and other nonsteroidal anti-inflammatory drugs, and polymorphisms in relation to colorectal cancer. | Andersen V et al. | 2014 | Alimentary pharmacology & therapeutics |
| 24971461 | Polymorphisms in the inflammatory pathway genes TLR2, TLR4, TLR9, LY96, NFKBIA, NFKB1, TNFA, TNFRSF1A, IL6R, IL10, IL23R, PTPN22, and PPARG are associated with susceptibility of inflammatory bowel disease in a Danish cohort. | Bank S et al. | 2014 | PloS one |
| 25223483 | Effect of functional nuclear factor-kappaB genetic polymorphisms on hepatitis B virus persistence and their interactions with viral mutations on the risk of hepatocellular carcinoma. | Zhang Q et al. | 2014 | Annals of oncology |
| 25304949 | Role of genetic polymorphisms in NFKB-mediated inflammatory pathways in response to primary chemoradiation therapy for rectal cancer. | Dzhugashvili M et al. | 2014 | International journal of radiation oncology, biology, physics |
| 25367031 | Association of NFKB1 and NFKBIA polymorphisms in relation to susceptibility of Behçet's disease. | Yenmis G et al. | 2015 | Scandinavian journal of immunology |
| 25491747 | Interactions between meat intake and genetic variation in relation to colorectal cancer. | Andersen V et al. | 2015 | Genes & nutrition |
| 25559835 | Genetic polymorphisms in inflammatory response genes and their associations with breast cancer risk. | Wang Z et al. | 2014 | Croatian medical journal |
| 25685286 | Adiponectin: Probe of the molecular paradigm associating diabetes and obesity. | Ghoshal K et al. | 2015 | World journal of diabetes |
| 25692306 | A functional insertion/deletion polymorphism in the promoter region of the NFKB1 gene increases the risk of papillary thyroid carcinoma. | Wang X et al. | 2015 | Genetic testing and molecular biomarkers |
| 25705893 | Polymorphisms in NFKB1 and TLR4 and interaction with dietary and life style factors in relation to colorectal cancer in a Danish prospective case-cohort study. | Kopp TI et al. | 2015 | PloS one |
| 25773394 | NFKB1/NFKBIa polymorphisms are associated with the progression of cervical carcinoma in HPV-infected postmenopausal women from rural area. | Pallavi S et al. | 2015 | Tumour biology |
| 25777921 | ||||
| 26053525 | Association of Pre-miRNA-499 rs3746444 and Pre-miRNA-146a rs2910164 Polymorphisms and Susceptibility to Behcet's Disease. | Oner T et al. | 2015 | Genetic testing and molecular biomarkers |
| 26075620 | Genetic Variation in NFKB1 and NFKBIA and Susceptibility to Coronary Artery Disease in a Chinese Uygur Population. | Lai HM et al. | 2015 | PloS one |
| 26263974 | Molecular Classification and Pharmacogenetics of Primary Plasma Cell Leukemia: An Initial Approach toward Precision Medicine. | Simeon V et al. | 2015 | International journal of molecular sciences |
| 26345753 | Association of the genetic polymorphisms of NFKB1 with susceptibility to ovarian cancer. | Chen LP et al. | 2015 | Genetics and molecular research |
| 26367014 | Influence of Genetic Ancestry on INDEL Markers of NFKβ1, CASP8, PAR1, IL4 and CYP19A1 Genes in Leprosy Patients. | Pinto P et al. | 2015 | PLoS neglected tropical diseases |
| 26484607 | The relationship between functional promoter -94 ins/del ATTG polymorphism in NF-κ B1 gene and the risk of urinary cancer. | Li X et al. | 2016 | Cancer biomarkers |
| 26563375 | Association and interaction of NFKB1 rs28362491 insertion/deletion ATTG polymorphism and PPP1R13L and CD3EAP related to lung cancer risk in a Chinese population. | Yin J et al. | 2016 | Tumour biology |
| 26794091 | Two Genetic Variations in the IRF8 region are associated with Behçet's disease in Han Chinese. | Jiang Y et al. | 2016 | Scientific reports |
| 26794449 | Association of functional genetic variants of transcription factor Forkhead Box P3 and Nuclear Factor-κB with end-stage renal disease and renal allograft outcome. | Misra MK et al. | 2016 | Gene |
| 26799199 | Association Between the NFKB1-94ins/del ATTG Polymorphism (rs28362491) and Coronary Artery Disease: A Systematic Review and Meta-Analysis. | Chen QJ et al. | 2016 | Genetic testing and molecular biomarkers |
| 26827631 | The -94Ins/DelATTG polymorphism in NFκB1 promoter modulates chronic hepatitis C and liver disease progression. | Fakhir FZ et al. | 2016 | Infection, genetics and evolution |
| 26879815 | Distribution of allelic and genotypic frequencies of IL1A, IL4, NFKB1 and PAR1 variants in Native American, African, European and Brazilian populations. | Amador MA et al. | 2016 | BMC research notes |
| 26919710 | Variations in genes involved in regulation of the nuclear factor - κB pathway and the risk of acute myeloid leukaemia. | Rybka J et al. | 2016 | International journal of immunogenetics |
| 27003425 | Inflammatory and Immune Response Genes Polymorphisms are Associated with Susceptibility to Chronic Obstructive Pulmonary Disease in Tatars Population from Russia. | Korytina GF et al. | 2016 | Biochemical genetics |
| 27041523 | A Role for Heterozygosity of NF-𝜅B1 rs28362491 Polymorphism in Patients with Idiopathic Oligospermia. | Tek B et al. | 2016 | Archives of Iranian medicine |
| 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 |
| 27145040 | Polymorphisms in CYP19A1 and NFKB1 genes are associated with cutaneous melanoma risk in southern Brazilian patients. | Escobar GF et al. | 2016 | Melanoma research |
| 27348478 | HLA-Cw6 allele, NFkB1 and NFkBIA polymorphisms play no role in predicting response to etanercept in psoriatic patients. | Caldarola G et al. | 2016 | Pharmacogenetics and genomics |
| 27417569 | Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases. | Bek S et al. | 2016 | Alimentary pharmacology & therapeutics |
| 27461004 | Association of six CpG-SNPs in the inflammation-related genes with coronary heart disease. | Chen X et al. | 2016 | Human genomics |
| 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 |
| 27534721 | Influence of elevated-CRP level-related polymorphisms in non-rheumatic Caucasians on the risk of subclinical atherosclerosis and cardiovascular disease in rheumatoid arthritis. | López-Mejías R et al. | 2016 | Scientific reports |
| 27713515 | The influence of single nucleotide polymorphisms on the association between dietary acrylamide intake and endometrial cancer risk. | Hogervorst JG et al. | 2016 | Scientific reports |
| 27965977 | Lack of Association between Genetic Polymorphisms of JAK-STAT Signaling Pathway Genes and Acute Anterior Uveitis in Han Chinese. | Cheng L et al. | 2016 | BioMed research international |
| 28039461 | NFKB1 -94insertion/deletion ATTG polymorphism and cancer risk: Evidence from 50 case-control studies. | Fu W et al. | 2017 | Oncotarget |
| 28083614 | Significance of Polymorphism and Expression of miR-146a and NFkB1 Genetic Variants in Patients with Rheumatoid Arthritis. | Bogunia-Kubik K et al. | 2016 | Archivum immunologiae et therapiae experimentalis |
| 28265344 | Association of NFKB1 gene polymorphism (rs28362491) with levels of inflammatory biomarkers and susceptibility to diabetic nephropathy in Asian Indians. | Gautam A et al. | 2017 | World journal of diabetes |
| 28361429 | Possible Role of Polymorphisms in TNFA, NFKB1, and CASP8 Gene Promoter Areas in the Development of Chronic Lymphocytic Leukemia. | Ovsepyan VA et al. | 2017 | Bulletin of experimental biology and medicine |
| 28389768 | Genetic polymorphisms of NFκB1-94ins/delATTG and NFκBIA-881A/G genes in Egyptian patients with colorectal cancer. | Youssef MR et al. | 2017 | Familial cancer |
| 28529598 | Biological interaction of cigarette smoking on the association between genetic polymorphisms involved in inflammation and the risk of lung cancer: A case-control study in Japan. | Yamamoto Y et al. | 2017 | Oncology letters |
| 28674224 | Association of NFKB1A and microRNAs variations and the susceptibility to atherosclerosis. | Oner T et al. | 2017 | Journal of genetics |
| 28677621 | Polymorphisms within Genes Involved in Regulation of the NF-κB Pathway in Patients with Rheumatoid Arthritis. | Gębura K et al. | 2017 | International journal of molecular sciences |
| 28749120 | Effects of Tobacco Habits on the Polymorphism of NFKB1 and NFKB1A Gene of Head and Neck Squamous Cell Carcinoma in Indian Population. | Gupta A et al. | 2017 | Asian Pacific journal of cancer prevention |
| 29085228 | Association of insertion-deletions polymorphisms with colorectal cancer risk and clinical features. | Marques D et al. | 2017 | World journal of gastroenterology |
| 29247331 | Polymorphisms in inflammation-related genes and the risk of primary varicose veins in ethnic Russians. | Shadrina A et al. | 2018 | Immunologic research |
| 29312552 | NLRP3 inflammasome activation plays a carcinogenic role through effector cytokine IL-18 in lymphoma. | Zhao X et al. | 2017 | Oncotarget |
| 29358861 | Analysis of 12 variants in the development of gastric and colorectal cancers. | Cavalcante GC et al. | 2017 | World journal of gastroenterology |
| 29566186 | Meat and fiber intake and interaction with pattern recognition receptors (TLR1, TLR2, TLR4, and TLR10) in relation to colorectal cancer in a Danish prospective, case-cohort study. | Kopp TI et al. | 2018 | The American journal of clinical nutrition |
| 29601852 | Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and their association with type 2 diabetes and impaired renal function. | Coto E et al. | 2018 | Human immunology |
| 29635862 | A functional haplotype of NFKB1 influence susceptibility to oral cancer: a population-based and in vitro study. | Chen F et al. | 2018 | Cancer medicine |
| 29664665 | Genetic Variation in NFKB1 Gene Influences Liver Enzyme Levels in Morbidly Obese Women. | Yenmis G et al. | 2018 | Archives of Iranian medicine |
| 29845028 | NF-κB1 Rs28362491 Mutant Allele Frequencies along the Silk Road and Beyond. | Pordel S et al. | 2018 | Iranian journal of public health |
| 29942932 | NFKB1 rs28362491 and pre-miRNA-146a rs2910164 SNPs on E-Cadherin expression in case of idiopathic oligospermia: A case-control study. | Tunçdemir M et al. | 2018 | International journal of reproductive biomedicine |
| 30020835 | Application of Single-Tube Tri-Primer ARMS-PCR to Detect the NFKB1 ATTG Insertion/Deletion Polymorphism. | Chao J et al. | 2018 | Genetic testing and molecular biomarkers |
| 30056167 | Genetic variation on the NFKB1 genes associates with the outcomes of HCV infection among Chinese Han population. | Fan HZ et al. | 2018 | Infection, genetics and evolution |
| 30412745 | Genetic variations in inflammation-related genes and their influence on the susceptibility of pediatric acute lung injury in a Chinese population. | Zhao X et al. | 2019 | Gene |
| 30429237 | Association between inflammatory-response gene polymorphisms and risk of acute kidney injury in children. | He J et al. | 2018 | Bioscience reports |
| 30902734 | Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and risk for early-onset coronary artery disease. | Coto E et al. | 2019 | Immunology letters |
| 30910844 | NFKB1 gene rs28362491 polymorphism is associated with the susceptibility of acute coronary syndrome. | Jin SY et al. | 2019 | Bioscience reports |
| 31044631 | Association between Genetic Polymorphisms of Inflammatory Response Genes and Acute Pancreatitis. | Rodriguez-Nicolas A et al. | 2019 | Immunological investigations |
| 31077459 | Association of NFKB1 -94ATTG ins/del polymorphism (rs28362491) with pemphigus vulgaris. | Chatzikyriakidou A et al. | 2019 | Experimental dermatology |
| 31450925 | Gene Combination of CD44 rs187116, CD133 rs2240688, NF-κB1 rs28362491 and GSTM1 Deletion as a Potential Biomarker in Risk Prediction of Breast Cancer in Lower Northern Thailand. | Sapcharoen K et al. | 2019 | Asian Pacific journal of cancer prevention |
| 31612070 | Genetic Association between NFKBIA and NFKB1 Gene Polymorphisms and the Susceptibility to Head and Neck Cancer: A Meta-Analysis. | Li L et al. | 2019 | Disease markers |
| 31662568 | Association of IRAK1 Gene Polymorphism rs3027898 With Papillary Cancer Restricted to the Thyroid Gland: A Pilot Study. | Chatzikyriakidou A et al. | 2019 | In vivo (Athens, Greece) |
| 31813598 | Nuclear factor-κB1 and MicroRNA-146a polymorphisms and risk of acute graft versus host disease post allogeneic stem cell transplantation. | Mossallam GI et al. | 2020 | Immunobiology |
| 31826071 | Interleukin 28 Polymorphisms and Hepatocellular Carcinoma Development after Direct Acting Antiviral Therapy for Chronic Hepatitis C. | Simili A et al. | 2019 | Journal of gastrointestinal and liver diseases |
| 31992083 | IL1β, IL18, NFKB1 and IFNG gene interactions are associated with severity of rheumatoid arthritis: A pilot study. | Gomes da Silva IIF et al. | 2020 | Autoimmunity |
| 32441399 | The possible role of NF-κB1 Rs28362491 polymorphism in male fertility of Egyptian population. | El-Hoseny R et al. | 2020 | Andrologia |
| 32513188 | Significant association between rs28362491 polymorphism in NF-κB1 gene and coronary artery disease: a meta-analysis. | Wang Y et al. | 2020 | BMC cardiovascular disorders |
| 32671985 | Inherited variant in NFκB-1 promoter is associated with increased risk of IBD in an Algerian population and modulates SOX9 binding. | Hamadou I et al. | 2020 | Cancer reports (Hoboken, N.J.) |
| 32851488 | Nuclear factor NF-κB1 functional promoter polymorphism and its expression conferring the risk of Type 2 diabetes-associated dyslipidemia. | Chatterjee T et al. | 2020 | Mammalian genome |
| 32981742 | Genetic polymorphisms and expression of NLRP3 inflammasome-related genes are associated with Philadelphia chromosome-negative myeloproliferative neoplasms. | Zhou Y et al. | 2020 | Human immunology |
| 33043529 | Evidence for altered host genetic factors in KSHV infection and KSHV-related disease development. | Blumenthal MJ et al. | 2021 | Reviews in medical virology |
| 33161109 | Association of -94 ATTG insertion/deletion NFkB1 and c.*126G>A NFkBIA genetic polymorphisms with oxidative and nitrosative stress biomarkers in Brazilian subjects with Parkinson's Disease. | Baltus THL et al. | 2021 | Neuroscience letters |
| 33459954 | NFKB1 promoter -94 insertion/deletion ATTG polymorphism (rs28362491) is associated with severity and disease progression of rheumatoid arthritis through interleukin-6 levels modulation in Egyptian patients. | Elkhawaga SY et al. | 2021 | Clinical rheumatology |
| 33653249 | NF-κB1 Intronic Region Polymorphisms as Risk Factor for Head and Neck Cancer in HPV-Infected Population from Pakistan. | Sarwar S et al. | 2022 | Current molecular medicine |
| 34305452 | Polymorphism of CD14 Gene Is Associated with Adverse Outcome among Patients Suffering from Cardiovascular Disease. | Schulz S et al. | 2021 | Mediators of inflammation |
| 34447654 | Association of NFKB1, NKX2-5, GATA4 and RANKL Gene Polymorphisms with Sporadic Congenital Heart Disease in Greek Patients. | Aidinidou L et al. | 2021 | Balkan journal of medical genetics |
| 34464884 | Assessment of genetic polymorphisms within nuclear factor-κB signaling pathway genes in rheumatoid arthritis: Evidence for replication and genetic interaction. | Zeng Z et al. | 2021 | International immunopharmacology |
| 34683186 | Influence of Polymorphism on the NFkB1 Gene (rs28362491) on the Susceptibility to Sarcopenia in the Elderly of the Brazilian Amazon. | Pereira EEB et al. | 2021 | Journal of personalized medicine |
| 34730002 | The significant role of a functional polymorphism in the NF-κB1 gene in breast cancer: evidence from an Iranian cohort. | Alidoust M et al. | 2021 | Future oncology (London, England) |
| 34754215 | Genetic Polymorphisms in NLRP3 Inflammasome-Associated Genes in Patients with B-Cell Non-Hodgkin's Lymphoma. | Liu ZH et al. | 2021 | Journal of inflammation research |
| 34767808 | The role of NFKB1/NFKBIA genetic variants in HPV infection: A cross-sectional cohort study. | Sena MM et al. | 2022 | Experimental and molecular pathology |
| 34834553 | Innate-Immunity Genes in Obesity. | Mikhailova SV et al. | 2021 | Journal of personalized medicine |
| 34918708 | The influence of the -94 Ins/Del ATTG polymorphism of NFkB on the anti-CCP antibody levels in patients with rheumatoid arthritis. | Ayón-Pérez MF et al. | 2021 | Medicine |
| 35138004 | Variations within Toll-like receptor (TLR) and TLR signaling pathway-related genes and their synergistic effects on the risk of Guillain-Barré syndrome. | Dutta D et al. | 2022 | Journal of the peripheral nervous system |
| 35368772 | Association between NF-κB Signal Pathway-Related Gene Polymorphisms and Response to Alendronate Treatment in Postmenopausal Chinese Women with Low Bone Mineral Density. | Shen X et al. | 2022 | Evidence-based complementary and alternative medicine |
| 35777990 | Genetic variants in the NF-κB signaling pathway (NFKB1, NFKBIA, NFKBIZ) and risk of critical outcome among COVID-19 patients. | Camblor DG et al. | 2022 | Human immunology |
| 36011257 | Genetic Polymorphisms of Nuclear Factor-κB Family Affect the Bone Mineral Density Response to Zoledronic Acid Therapy in Postmenopausal Chinese Women. | Wang WJ et al. | 2022 | Genes |
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.