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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.


Current Build 154

Released April 21, 2020

Homo sapiens
chr6:31575254 (GRCh38.p12) 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.

Variation Type
SNV Single Nucleotide Variation
A=0.116335 (17554/150892, GnomAD_exome)
A=0.143142 (17974/125568, TOPMED)
A=0.155316 (16999/109448, ALFA Project) (+ 19 more)
A=0.09674 (7613/78698, PAGE_STUDY)
A=0.14683 (4605/31362, GnomAD)
A=0.16159 (3247/20094, ExAC)
A=0.1414 (803/5678, GO-ESP)
A=0.0903 (452/5008, 1000G)
A=0.1672 (749/4480, Estonian)
A=0.1972 (760/3854, ALSPAC)
A=0.1955 (725/3708, TWINSUK)
A=0.0720 (211/2930, KOREAN)
A=0.0851 (161/1892, HapMap)
A=0.192 (192/998, GoNL)
A=0.107 (101/946, PharmGKB)
A=0.175 (105/600, NorthernSweden)
A=0.110 (59/534, MGP)
A=0.213 (46/216, Qatari)
G=0.41 (28/68, SGDP_PRJ)
A=0.17 (7/40, GENOME_DK)
G=0.5 (4/8, Siberian)
A=0.5 (4/8, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TNF : 2KB Upstream Variant
633 citations
Genomic View
See rs on genome

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.p12 chr 6 NC_000006.12:g.31575254G>A
GRCh37.p13 chr 6 NC_000006.11:g.31543031G>A
TNF RefSeqGene NG_007462.1:g.4682G>A
LTA RefSeqGene NG_012010.1:g.8156G>A
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3052541A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3052647A>G
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2880295G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2885915G>A
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2874534G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2873832G>A
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2831073G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2836669G>A
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2822987G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2828572G>A
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2917152G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2922737G>A
Gene: TNF, tumor necrosis factor (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
TNF transcript NM_000594.4:c. N/A Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 227757 )
ClinVar Accession Disease Names Clinical Significance
RCV000211242.1 etanercept response - Efficacy Drug-Response
RCV000211284.1 infliximab response - Efficacy Drug-Response
RCV000211408.1 Tumor necrosis factor alpha (TNF-alpha) inhibitors response - Efficacy Drug-Response
RCV000211419.1 adalimumab response - Efficacy Drug-Response

ALFA Allele Frequency (New)
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 260274 G=0.847933 A=0.152067
European Sub 223476 G=0.840730 A=0.159270
African Sub 9072 G=0.8761 A=0.1239
African Others Sub 312 G=0.881 A=0.119
African American Sub 8760 G=0.8759 A=0.1241
Asian Sub 6664 G=0.9275 A=0.0725
East Asian Sub 4806 G=0.9247 A=0.0753
Other Asian Sub 1858 G=0.9349 A=0.0651
Latin American 1 Sub 584 G=0.875 A=0.125
Latin American 2 Sub 5366 G=0.9152 A=0.0848
South Asian Sub 324 G=0.907 A=0.093
Other Sub 14788 G=0.87686 A=0.12314


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").

Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 150892 G=0.883665 A=0.116335
gnomAD - Exomes European Sub 69496 G=0.84058 A=0.15942
gnomAD - Exomes Asian Sub 34862 G=0.91937 A=0.08063
gnomAD - Exomes American Sub 25616 G=0.94058 A=0.05942
gnomAD - Exomes Ashkenazi Jewish Sub 8522 G=0.9238 A=0.0762
gnomAD - Exomes African Sub 7930 G=0.8815 A=0.1185
gnomAD - Exomes Other Sub 4466 G=0.8762 A=0.1238
TopMed Global Study-wide 125568 G=0.856858 A=0.143142
ALFA Total Global 109448 G=0.844684 A=0.155316
ALFA European Sub 93626 G=0.83763 A=0.16237
ALFA Other Sub 6882 G=0.8714 A=0.1286
ALFA African Sub 4618 G=0.8826 A=0.1174
ALFA Latin American 2 Sub 4156 G=0.9141 A=0.0859
ALFA Latin American 1 Sub 82 G=0.89 A=0.11
ALFA Asian Sub 80 G=0.95 A=0.05
ALFA South Asian Sub 4 G=1.0 A=0.0
The PAGE Study Global Study-wide 78698 G=0.90326 A=0.09674
The PAGE Study AfricanAmerican Sub 32516 G=0.87249 A=0.12751
The PAGE Study Mexican Sub 10808 G=0.93338 A=0.06662
The PAGE Study Asian Sub 8316 G=0.9756 A=0.0244
The PAGE Study PuertoRican Sub 7918 G=0.9057 A=0.0943
The PAGE Study NativeHawaiian Sub 4534 G=0.9285 A=0.0715
The PAGE Study Cuban Sub 4230 G=0.8823 A=0.1177
The PAGE Study Dominican Sub 3828 G=0.8824 A=0.1176
The PAGE Study CentralAmerican Sub 2450 G=0.9327 A=0.0673
The PAGE Study SouthAmerican Sub 1982 G=0.9289 A=0.0711
The PAGE Study NativeAmerican Sub 1260 G=0.8754 A=0.1246
The PAGE Study SouthAsian Sub 856 G=0.928 A=0.072
gnomAD - Genomes Global Study-wide 31362 G=0.85317 A=0.14683
gnomAD - Genomes European Sub 18886 G=0.83623 A=0.16377
gnomAD - Genomes African Sub 8704 G=0.8743 A=0.1257
gnomAD - Genomes East Asian Sub 1550 G=0.9110 A=0.0890
gnomAD - Genomes Other Sub 1084 G=0.8321 A=0.1679
gnomAD - Genomes American Sub 848 G=0.921 A=0.079
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.893 A=0.107
ExAC Global Study-wide 20094 G=0.83841 A=0.16159
ExAC Europe Sub 9500 G=0.7780 A=0.2220
ExAC Asian Sub 8566 G=0.9075 A=0.0925
ExAC African Sub 1294 G=0.8060 A=0.1940
ExAC American Sub 554 G=0.868 A=0.132
ExAC Other Sub 180 G=0.878 A=0.122
GO Exome Sequencing Project Global Study-wide 5678 G=0.8586 A=0.1414
GO Exome Sequencing Project European American Sub 3944 G=0.8494 A=0.1506
GO Exome Sequencing Project African American Sub 1734 G=0.8795 A=0.1205
1000Genomes Global Study-wide 5008 G=0.9097 A=0.0903
1000Genomes African Sub 1322 G=0.8805 A=0.1195
1000Genomes East Asian Sub 1008 G=0.9415 A=0.0585
1000Genomes Europe Sub 1006 G=0.8658 A=0.1342
1000Genomes South Asian Sub 978 G=0.947 A=0.053
1000Genomes American Sub 694 G=0.931 A=0.069
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8328 A=0.1672
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8028 A=0.1972
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8045 A=0.1955
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.9280 A=0.0720
HapMap Global Study-wide 1892 G=0.9149 A=0.0851
HapMap American Sub 770 G=0.912 A=0.088
HapMap African Sub 692 G=0.913 A=0.087
HapMap Asian Sub 254 G=0.937 A=0.063
HapMap Europe Sub 176 G=0.903 A=0.097
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.808 A=0.192
PharmGKB Aggregated Global Study-wide 946 G=0.893 A=0.107
PharmGKB Aggregated PA135299591 Sub 946 G=0.893 A=0.107
Northern Sweden ACPOP Study-wide 600 G=0.825 A=0.175
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.890 A=0.110
Qatari Global Study-wide 216 G=0.787 A=0.213
SGDP_PRJ Global Study-wide 68 G=0.41 A=0.59
The Danish reference pan genome Danish Study-wide 40 G=0.82 A=0.17
Siberian Global Study-wide 8 G=0.5 A=0.5

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.p12 chr 6 NC_000006.12:g.31575254= NC_000006.12:g.31575254G>A
GRCh37.p13 chr 6 NC_000006.11:g.31543031= NC_000006.11:g.31543031G>A
TNF RefSeqGene NG_007462.1:g.4682= NG_007462.1:g.4682G>A
LTA RefSeqGene NG_012010.1:g.8156= NG_012010.1:g.8156G>A
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3052541A>G NT_113891.3:g.3052541=
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3052647A>G NT_113891.2:g.3052647=
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.2880295= NT_167246.2:g.2880295G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.2885915= NT_167246.1:g.2885915G>A
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.2874534= NT_167249.2:g.2874534G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.2873832= NT_167249.1:g.2873832G>A
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.2831073= NT_167248.2:g.2831073G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.2836669= NT_167248.1:g.2836669G>A
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.2822987= NT_167245.2:g.2822987G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.2828572= NT_167245.1:g.2828572G>A
GRCh38.p12 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.2917152= NT_167247.2:g.2917152G>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.2922737= NT_167247.1:g.2922737G>A

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#.

130 SubSNP, 21 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2420741 Nov 14, 2000 (89)
2 PGA-UW-FHCRC ss4328930 Mar 26, 2002 (106)
3 SC_JCM ss4377317 Mar 26, 2002 (106)
4 SNP500CANCER ss5586943 Jul 02, 2003 (116)
5 EGP_SNPS ss6310583 Feb 20, 2003 (111)
6 EGP_SNPS ss6312900 Feb 20, 2003 (111)
7 SI_MHC_SNP ss12691494 Oct 31, 2003 (118)
8 FHCRC ss16360688 Feb 27, 2004 (120)
9 FHCRC ss16360736 Feb 27, 2004 (120)
10 STEJUSTINE-REGGEN ss51854703 Mar 16, 2006 (126)
11 PGA-UW-FHCRC ss52088979 Oct 15, 2006 (127)
12 KRIBB_YJKIM ss65843449 Nov 30, 2006 (127)
13 EGP_SNPS ss66857511 Nov 30, 2006 (127)
14 EGP_SNPS ss66859809 Nov 30, 2006 (127)
15 PERLEGEN ss68971678 May 17, 2007 (127)
16 PHARMGKB_PARC ss69366252 May 17, 2007 (127)
17 ILLUMINA ss75254821 Dec 07, 2007 (129)
18 CGM_KYOTO ss76873614 Dec 07, 2007 (129)
19 HGSV ss80949408 Dec 15, 2007 (130)
20 HURLEY-POSCH-LAB ss86217651 Mar 23, 2008 (129)
21 SHGC ss95216268 Feb 05, 2009 (130)
22 BGI ss104296823 Dec 01, 2009 (131)
23 1000GENOMES ss109901711 Feb 13, 2009 (130)
24 ILLUMINA-UK ss116394700 Feb 14, 2009 (130)
25 GMI ss156747688 Dec 01, 2009 (131)
26 ILLUMINA ss160462872 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss162198777 Jul 04, 2010 (132)
28 ILLUMINA ss172924883 Jul 04, 2010 (132)
29 BUSHMAN ss201626002 Jul 04, 2010 (132)
30 1000GENOMES ss222304163 Jul 14, 2010 (132)
31 1000GENOMES ss233399218 Jul 14, 2010 (132)
32 1000GENOMES ss240469923 Jul 15, 2010 (132)
33 ILLUMINA ss244285039 Jul 04, 2010 (132)
34 BL ss254187389 May 09, 2011 (137)
35 GMI ss278727093 May 04, 2012 (137)
36 GMI ss285374156 Apr 25, 2013 (138)
37 ILLUMINA ss410916050 Sep 17, 2011 (137)
38 ILLUMINA ss480300551 May 04, 2012 (137)
39 ILLUMINA ss480311656 May 04, 2012 (137)
40 ILLUMINA ss481067278 Sep 08, 2015 (146)
41 ILLUMINA ss484948088 May 04, 2012 (137)
42 EXOME_CHIP ss491381906 May 04, 2012 (137)
43 ILLUMINA ss536992328 Sep 08, 2015 (146)
44 SSMP ss653035581 Apr 25, 2013 (138)
45 NHLBI-ESP ss712699264 Apr 25, 2013 (138)
46 ILLUMINA ss778467783 Sep 08, 2015 (146)
47 ILLUMINA ss780682574 Sep 08, 2015 (146)
48 ILLUMINA ss782920352 Sep 08, 2015 (146)
49 ILLUMINA ss783355928 Sep 08, 2015 (146)
50 ILLUMINA ss783883384 Sep 08, 2015 (146)
51 ILLUMINA ss832175477 Sep 08, 2015 (146)
52 ILLUMINA ss833923542 Sep 08, 2015 (146)
53 JMKIDD_LAB ss974459603 Aug 21, 2014 (142)
54 EVA-GONL ss982766421 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1067477166 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1073506038 Aug 21, 2014 (142)
57 1000GENOMES ss1319558829 Aug 21, 2014 (142)
58 EVA_GENOME_DK ss1581606820 Apr 01, 2015 (144)
59 EVA_DECODE ss1592310303 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1615278019 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1658272052 Apr 01, 2015 (144)
62 EVA_EXAC ss1688230716 Apr 01, 2015 (144)
63 EVA_MGP ss1711121135 Apr 01, 2015 (144)
64 EVA_SVP ss1712851078 Apr 01, 2015 (144)
65 ILLUMINA ss1752628691 Sep 08, 2015 (146)
66 ILLUMINA ss1752628692 Sep 08, 2015 (146)
67 ILLUMINA ss1917802451 Feb 12, 2016 (147)
68 WEILL_CORNELL_DGM ss1926018780 Feb 12, 2016 (147)
69 ILLUMINA ss1946173378 Feb 12, 2016 (147)
70 ILLUMINA ss1958888381 Feb 12, 2016 (147)
71 JJLAB ss2023642576 Sep 14, 2016 (149)
72 ILLUMINA ss2094824801 Dec 20, 2016 (150)
73 ILLUMINA ss2095178036 Dec 20, 2016 (150)
74 USC_VALOUEV ss2151809013 Dec 20, 2016 (150)
75 HUMAN_LONGEVITY ss2282946228 Dec 20, 2016 (150)
76 TOPMED ss2451321803 Dec 20, 2016 (150)
77 SYSTEMSBIOZJU ss2626308723 Nov 08, 2017 (151)
78 ILLUMINA ss2634429968 Nov 08, 2017 (151)
79 ILLUMINA ss2635155642 Nov 08, 2017 (151)
80 GRF ss2707402813 Nov 08, 2017 (151)
81 ILLUMINA ss2711069578 Nov 08, 2017 (151)
82 GNOMAD ss2735648837 Nov 08, 2017 (151)
83 GNOMAD ss2747581793 Nov 08, 2017 (151)
84 GNOMAD ss2837428886 Nov 08, 2017 (151)
85 AFFY ss2985362252 Nov 08, 2017 (151)
86 AFFY ss2985994164 Nov 08, 2017 (151)
87 SWEGEN ss2998796491 Nov 08, 2017 (151)
88 ILLUMINA ss3022599572 Nov 08, 2017 (151)
89 BIOINF_KMB_FNS_UNIBA ss3025608431 Nov 08, 2017 (151)
90 TOPMED ss3493847195 Nov 08, 2017 (151)
91 ILLUMINA ss3625897843 Oct 12, 2018 (152)
92 ILLUMINA ss3629503652 Oct 12, 2018 (152)
93 ILLUMINA ss3629503653 Oct 12, 2018 (152)
94 ILLUMINA ss3632348527 Oct 12, 2018 (152)
95 ILLUMINA ss3633415350 Oct 12, 2018 (152)
96 ILLUMINA ss3634137836 Oct 12, 2018 (152)
97 ILLUMINA ss3635057013 Oct 12, 2018 (152)
98 ILLUMINA ss3635057014 Oct 12, 2018 (152)
99 ILLUMINA ss3635818854 Oct 12, 2018 (152)
100 ILLUMINA ss3636778275 Oct 12, 2018 (152)
101 ILLUMINA ss3637571638 Oct 12, 2018 (152)
102 ILLUMINA ss3638619862 Oct 12, 2018 (152)
103 ILLUMINA ss3640764312 Oct 12, 2018 (152)
104 ILLUMINA ss3640764313 Oct 12, 2018 (152)
105 ILLUMINA ss3643561243 Oct 12, 2018 (152)
106 ILLUMINA ss3644906437 Oct 12, 2018 (152)
107 OMUKHERJEE_ADBS ss3646334755 Oct 12, 2018 (152)
108 ILLUMINA ss3653112183 Oct 12, 2018 (152)
109 ILLUMINA ss3653112184 Oct 12, 2018 (152)
110 ILLUMINA ss3654128111 Oct 12, 2018 (152)
111 KU-SAB ss3654261673 Oct 12, 2018 (152)
112 EGCUT_WGS ss3666710812 Jul 13, 2019 (153)
113 EVA_DECODE ss3716909250 Jul 13, 2019 (153)
114 ILLUMINA ss3726330083 Jul 13, 2019 (153)
115 ACPOP ss3733362133 Jul 13, 2019 (153)
116 ILLUMINA ss3744549890 Jul 13, 2019 (153)
117 ILLUMINA ss3745357013 Jul 13, 2019 (153)
118 ILLUMINA ss3745357014 Jul 13, 2019 (153)
119 EVA ss3764822995 Jul 13, 2019 (153)
120 PAGE_CC ss3771278957 Jul 13, 2019 (153)
121 ILLUMINA ss3772850714 Jul 13, 2019 (153)
122 ILLUMINA ss3772850715 Jul 13, 2019 (153)
123 KHV_HUMAN_GENOMES ss3807978245 Jul 13, 2019 (153)
124 EVA ss3824170220 Apr 26, 2020 (154)
125 EVA ss3825694226 Apr 26, 2020 (154)
126 EVA ss3829833058 Apr 26, 2020 (154)
127 EVA ss3838394885 Apr 26, 2020 (154)
128 EVA ss3843837070 Apr 26, 2020 (154)
129 SGDP_PRJ ss3864255581 Apr 26, 2020 (154)
130 KRGDB ss3911030497 Apr 26, 2020 (154)
131 1000Genomes NC_000006.11 - 31543031 Oct 12, 2018 (152)
132 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 31543031 Oct 12, 2018 (152)
133 Genetic variation in the Estonian population NC_000006.11 - 31543031 Oct 12, 2018 (152)
134 ExAC NC_000006.11 - 31543031 Oct 12, 2018 (152)
135 The Danish reference pan genome NC_000006.11 - 31543031 Apr 26, 2020 (154)
136 gnomAD - Genomes NC_000006.11 - 31543031 Jul 13, 2019 (153)
137 gnomAD - Exomes NC_000006.11 - 31543031 Jul 13, 2019 (153)
138 GO Exome Sequencing Project NC_000006.11 - 31543031 Oct 12, 2018 (152)
139 Genome of the Netherlands Release 5 NC_000006.11 - 31543031 Apr 26, 2020 (154)
140 HapMap NC_000006.12 - 31575254 Apr 26, 2020 (154)
141 KOREAN population from KRGDB NC_000006.11 - 31543031 Apr 26, 2020 (154)
142 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 31543031 Apr 26, 2020 (154)
143 Northern Sweden NC_000006.11 - 31543031 Jul 13, 2019 (153)
144 The PAGE Study NC_000006.12 - 31575254 Jul 13, 2019 (153)
145 PharmGKB Aggregated NC_000006.12 - 31575254 Apr 26, 2020 (154)
146 Qatari NC_000006.11 - 31543031 Apr 26, 2020 (154)
147 SGDP_PRJ NC_000006.11 - 31543031 Apr 26, 2020 (154)
148 Siberian NC_000006.11 - 31543031 Apr 26, 2020 (154)
149 TopMed NC_000006.12 - 31575254 Oct 12, 2018 (152)
150 UK 10K study - Twins NC_000006.11 - 31543031 Oct 12, 2018 (152)
151 dbGaP Population Frequency Project NC_000006.12 - 31575254 Apr 26, 2020 (154)
152 ClinVar RCV000211242.1 Oct 12, 2018 (152)
153 ClinVar RCV000211284.1 Oct 12, 2018 (152)
154 ClinVar RCV000211408.1 Oct 12, 2018 (152)
155 ClinVar RCV000211419.1 Oct 12, 2018 (152)

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)
rs3091256 Jul 03, 2002 (106)
rs4134777 Nov 14, 2002 (109)
rs36205298 Oct 25, 2006 (127)
rs59729336 May 25, 2008 (130)
rs116610137 Oct 26, 2010 (133)
rs117441802 Aug 16, 2010 (132)
rs148958203 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80949408 NC_000006.9:31651009:G:A NC_000006.12:31575253:G:A (self)
ss109901711, ss116394700, ss162198777, ss201626002, ss254187389, ss278727093, ss285374156, ss480300551, ss1592310303, ss1712851078, ss2635155642, ss3643561243 NC_000006.10:31651009:G:A NC_000006.12:31575253:G:A (self)
31326286, 17467583, 12449060, 8256040, 7771759, 85675752, 4791395, 628263, 7765195, 18207891, 236895, 6646998, 8060710, 16272561, 4325367, 17467583, ss222304163, ss233399218, ss240469923, ss480311656, ss481067278, ss484948088, ss491381906, ss536992328, ss653035581, ss712699264, ss778467783, ss780682574, ss782920352, ss783355928, ss783883384, ss832175477, ss833923542, ss974459603, ss982766421, ss1067477166, ss1073506038, ss1319558829, ss1581606820, ss1615278019, ss1658272052, ss1688230716, ss1711121135, ss1752628691, ss1752628692, ss1917802451, ss1926018780, ss1946173378, ss1958888381, ss2023642576, ss2094824801, ss2095178036, ss2151809013, ss2451321803, ss2626308723, ss2634429968, ss2707402813, ss2711069578, ss2735648837, ss2747581793, ss2837428886, ss2985362252, ss2985994164, ss2998796491, ss3022599572, ss3625897843, ss3629503652, ss3629503653, ss3632348527, ss3633415350, ss3634137836, ss3635057013, ss3635057014, ss3635818854, ss3636778275, ss3637571638, ss3638619862, ss3640764312, ss3640764313, ss3644906437, ss3646334755, ss3653112183, ss3653112184, ss3654128111, ss3666710812, ss3733362133, ss3744549890, ss3745357013, ss3745357014, ss3764822995, ss3772850714, ss3772850715, ss3824170220, ss3825694226, ss3829833058, ss3838394885, ss3864255581, ss3911030497 NC_000006.11:31543030:G:A NC_000006.12:31575253:G:A (self)
RCV000211242.1, RCV000211284.1, RCV000211408.1, RCV000211419.1, 3100211, 500426, 10675, 335045729, 413541372, ss2282946228, ss3025608431, ss3493847195, ss3654261673, ss3716909250, ss3726330083, ss3771278957, ss3807978245, ss3843837070 NC_000006.12:31575253:G:A NC_000006.12:31575253:G:A (self)
ss2420741, ss4328930, ss4377317, ss5586943, ss6310583, ss6312900, ss12691494, ss16360688, ss16360736, ss51854703, ss52088979, ss65843449, ss66857511, ss66859809, ss68971678, ss69366252, ss75254821, ss76873614, ss86217651, ss95216268, ss104296823, ss156747688, ss160462872, ss172924883, ss244285039, ss410916050 NT_007592.15:31483030:G:A NC_000006.12:31575253:G:A (self)

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

633 citations for rs1800629
PMID Title Author Year Journal
12190096 A positive response to infliximab in Crohn disease: association with a higher systemic inflammation before treatment but not with -308 TNF gene polymorphism. Louis E et al. 2002 Scandinavian journal of gastroenterology
12759288 Genetic markers for the efficacy of tumour necrosis factor blocking therapy in rheumatoid arthritis. Padyukov L et al. 2003 Annals of the rheumatic diseases
12847678 Polymorphism at position -308 of the tumor necrosis factor alpha gene influences outcome of infliximab therapy in rheumatoid arthritis. Mugnier B et al. 2003 Arthritis and rheumatism
15726497 Gene-environment interaction effects on the development of immune responses in the 1st year of life. Hoffjan S et al. 2005 American journal of human genetics
15797957 Tumor necrosis factor-alpha polymorphism, bone strength phenotypes, and the risk of fracture in older women. Moffett SP et al. 2005 The Journal of clinical endocrinology and metabolism
15817713 Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Hersh CP et al. 2005 American journal of respiratory cell and molecular biology
15834068 Polymorphism at position -308 of the tumour necrosis factor alpha gene and rheumatoid arthritis pharmacogenetics. Fonseca JE et al. 2005 Annals of the rheumatic diseases
15895461 TNF polymorphisms in Alzheimer disease and functional implications on CSF beta-amyloid levels. Laws SM et al. 2005 Human mutation
16046815 Data-mining analysis suggests an epigenetic pathogenesis for type 2 diabetes. Wren JD et al. 2005 Journal of biomedicine & biotechnology
16385446 A testing framework for identifying susceptibility genes in the presence of epistasis. Millstein J et al. 2006 American journal of human genetics
16449530 Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma. Lan Q et al. 2006 Blood
16617143 Algorithm for automatic genotype calling of single nucleotide polymorphisms using the full course of TaqMan real-time data. Callegaro A et al. 2006 Nucleic acids research
16672072 The interferon gamma gene polymorphism +874 A/T is associated with severe acute respiratory syndrome. Chong WP et al. 2006 BMC infectious diseases
16720636 The -308 tumour necrosis factor-alpha gene polymorphism predicts therapeutic response to TNFalpha-blockers in rheumatoid arthritis and spondyloarthritis patients. Seitz M et al. 2007 Rheumatology (Oxford, England)
16759385 Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA). Imboden M et al. 2006 Clinical and molecular allergy
16820586 Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery. Podgoreanu MV et al. 2006 Circulation
16846490 Lemierre's syndrome and genetic polymorphisms: a case report. Constantin JM et al. 2006 BMC infectious diseases
16872485 Three allele combinations associated with multiple sclerosis. Favorova OO et al. 2006 BMC medical genetics
16909270 Association of TNF-alpha -308 G/A polymorphism with responsiveness to TNF-alpha-blockers in rheumatoid arthritis: a meta-analysis. Lee YH et al. 2006 Rheumatology international
17018637 Common genetic variants in proinflammatory and other immunoregulatory genes and risk for non-Hodgkin lymphoma. Wang SS et al. 2006 Cancer research
17054776 The genetics of chronic obstructive pulmonary disease. Wood AM et al. 2006 Respiratory research
17174749 Linkage disequilibrium with predisposing DR3 haplotypes accounts for apparent effects of tumor necrosis factor and lymphotoxin-alpha polymorphisms on type 1 diabetes susceptibility. Noble JA et al. 2006 Human immunology
17216494 Genetic variation in tumor necrosis factor and lymphotoxin-alpha (TNF-LTA) and breast cancer risk. Gaudet MM et al. 2007 Human genetics
17327408 Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival. Cerhan JR et al. 2007 Blood
17343250 Tumour necrosis factor (TNF)alpha -308 G/G promoter polymorphism and TNFalpha levels correlate with a better response to adalimumab in patients with rheumatoid arthritis. Cuchacovich M et al. 2006 Scandinavian journal of rheumatology
17450233 Parental smoking modifies the relation between genetic variation in tumor necrosis factor-alpha (TNF) and childhood asthma. Wu H et al. 2007 Environmental health perspectives
17510437 Immune mechanisms in non-Hodgkin lymphoma: joint effects of the TNF G308A and IL10 T3575A polymorphisms with non-Hodgkin lymphoma risk factors. Wang SS et al. 2007 Cancer research
17668374 Combining evidence of natural selection with association analysis increases power to detect malaria-resistance variants. Ayodo G et al. 2007 American journal of human genetics
17673491 A single tumour necrosis factor haplotype influences the response to adalimumab in rheumatoid arthritis. Miceli-Richard C et al. 2008 Annals of the rheumatic diseases
17701899 Flexible design for following up positive findings. Yu K et al. 2007 American journal of human genetics
17705862 Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples. Pullat J et al. 2007 BMC genomics
18041006 Association of TGF-beta1 codon 25 (G915C) polymorphism with hepatitis C virus infection. Pereira FA et al. 2008 Journal of medical virology
18050183 Influence of -308 A/G polymorphism in the tumor necrosis factor alpha gene on etanercept treatment in rheumatoid arthritis. Guis S et al. 2007 Arthritis and rheumatism
18194515 Polymorphisms of TNF-enhancer and gene for FcgammaRIIa correlate with the severity of falciparum malaria in the ethnically diverse Indian population. Sinha S et al. 2008 Malaria journal
18196539 TNF polymorphisms and prostate cancer risk. Danforth KN et al. 2008 The Prostate
18307517 Common studied polymorphisms do not affect plasma cytokine levels upon endotoxin exposure in humans. Taudorf S et al. 2008 Clinical and experimental immunology
18319718 Tumour-necrosis factor-A polymorphisms and gastric cancer risk: a meta-analysis. Gorouhi F et al. 2008 British journal of cancer
18398712 No association found between the promoter variants of TNF-alpha and diabetic retinopathy in Chinese patients with type 2 diabetes. Wang N et al. 2008 Current eye research
18423522 Estimating odds ratios in genome scans: an approximate conditional likelihood approach. Ghosh A et al. 2008 American journal of human genetics
18426866 Association of FTO with obesity-related traits in the Cebu Longitudinal Health and Nutrition Survey (CLHNS) Cohort. Marvelle AF et al. 2008 Diabetes
18434886 Sepsis syndrome and death in trauma patients are associated with variation in the gene encoding tumor necrosis factor. Menges T et al. 2008 Critical care medicine
18438841 Association between the level of circulating bioactive tumor necrosis factor alpha and the tumor necrosis factor alpha gene polymorphism at -308 in patients with rheumatoid arthritis treated with a tumor necrosis factor alpha inhibitor. Marotte H et al. 2008 Arthritis and rheumatism
18513389 New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background. Penco S et al. 2008 BMC bioinformatics
18515978 Association of tumor necrosis factor -308G/A promoter polymorphism with schizophrenia and bipolar affective disorder in a Polish population. Czerski PM et al. 2008 Neuropsychobiology
18520591 Sequence variants in host cell factor C1 are associated with Ménière's disease. Vrabec JT et al. 2008 Otology & neurotology
18551993 SNP combinations in chromosome-wide genes are associated with bone mineral density in Taiwanese women. Lin GT et al. 2008 The Chinese journal of physiology
18575614 Association between LTA, TNF and AGER polymorphisms and late diabetic complications. Lindholm E et al. 2008 PloS one
18603647 Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. Simoni M et al. 2008 Human reproduction update
18615156 Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. Liu C et al. 2008 Molecular medicine (Cambridge, Mass.)
18620570 The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Wood AM et al. 2008 Respiratory research
18633131 Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era. Habermann TM et al. 2008 Blood
18635873 TNF promoter polymorphisms associated with muscle phenotypes in humans. Liu D et al. 2008 Journal of applied physiology (Bethesda, Md.
18640487 Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation. Israni AK et al. 2008 American journal of kidney diseases
18676870 Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China. Hsing AW et al. 2008 Cancer research
18698679 Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk. Ferguson LR et al. 2008 World journal of gastroenterology
18709160 Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease. Melén E et al. 2008 Environmental health perspectives
18713756 Association of the tumour necrosis factor-308 variant with differential response to anti-TNF agents in the treatment of rheumatoid arthritis. Maxwell JR et al. 2008 Human molecular genetics
18715339 Associations between cytokine/cytokine receptor single nucleotide polymorphisms and humoral immunity to measles, mumps and rubella in a Somali population. Dhiman N et al. 2008 Tissue antigens
18796628 Etiologic heterogeneity among non-Hodgkin lymphoma subtypes. Morton LM et al. 2008 Blood
18805939 Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. Tempfer CB et al. 2009 Human reproduction update
18811622 Association of TNF-alpha with severe respiratory syncytial virus infection and bronchial asthma. Puthothu B et al. 2009 Pediatric allergy and immunology
18936436 Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. Chang MH et al. 2009 American journal of epidemiology
18990758 Genetic variation in tumor necrosis factor and the nuclear factor-kappaB canonical pathway and risk of non-Hodgkin's lymphoma. Cerhan JR et al. 2008 Cancer epidemiology, biomarkers & prevention
19035456 Adipokine genes and prostate cancer risk. Moore SC et al. 2009 International journal of cancer
19035492 Cytokine gene polymorphisms as risk and severity factors for juvenile dermatomyositis. Mamyrova G et al. 2008 Arthritis and rheumatism
19039607 A genetic association study in the Gambia using tagging polymorphisms in the major histocompatibility complex class III region implicates a HLA-B associated transcript 2 polymorphism in severe malaria susceptibility. Diakite M et al. 2009 Human genetics
19066394 Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma. Colt JS et al. 2009 Blood
19126646 Genetic polymorphisms in the cytokine genes and risk of hepatocellular carcinoma in low-risk non-Asians of USA. Ognjanovic S et al. 2009 Carcinogenesis
19131662 A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients. Wang X et al. 2009 Stroke
19147066 Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality. Hansen JA et al. 2009 Biology of blood and marrow transplantation
19167443 Family-based analysis of tumor necrosis factor and lymphotoxin-alpha tag polymorphisms with type 1 diabetes in the population of South Croatia. Boraska V et al. 2009 Human immunology
19225544 Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis. McDougal KE et al. 2009 The Journal of investigative dermatology
19233472 Long-range linkage on chromosome 6p of VEGF, FKBP5, HLA and TNF alleles associated with transplant rejection. Chen Y et al. 2009 Molecular immunology
19263529 Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach. Zee RY et al. 2009 Clinica chimica acta; international journal of clinical chemistry
19279689 TNF-alpha -308 G>A and -238 G>A polymorphisms are not major risk factors in Caucasian patients with exfoliation glaucoma. Mossböck G et al. 2009 Molecular vision
19281305 Tumor necrosis factor and lymphotoxin-alpha polymorphisms and severe malaria in African populations. Clark TG et al. 2009 The Journal of infectious diseases
19330901 Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study. Conen D et al. 2009 Journal of hypertension
19347053 Analysis of inflammation- and atherosclerosis-related gene polymorphisms in branch retinal vein occlusion. Steinbrugger I et al. 2009 Molecular vision
19356949 Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies. Van Dyke AL et al. 2009 Cytokine
19365401 TNF-alpha-308 G/A polymorphism and responsiveness to TNF-alpha blockade therapy in moderate to severe rheumatoid arthritis: a systematic review and meta-analysis. O'Rielly DD et al. 2009 The pharmacogenomics journal
19386798 Relevance of gamma interferon, tumor necrosis factor alpha, and interleukin-10 gene polymorphisms to susceptibility to Mediterranean spotted fever. Forte GI et al. 2009 Clinical and vaccine immunology
19401444 Body iron stores and glucose intolerance in premenopausal women: role of hyperandrogenism, insulin resistance, and genomic variants related to inflammation, oxidative stress, and iron metabolism. Martínez-García MA et al. 2009 Diabetes care
19405090 Genetic polymorphisms in chronic hyperplastic sinusitis with nasal polyposis. Bernstein JM et al. 2009 The Laryngoscope
19409079 Association of MICA with rheumatoid arthritis independent of known HLA-DRB1 risk alleles in a family-based and a case control study. Kirsten H et al. 2009 Arthritis research & therapy
19419979 Preliminary evidence of a genetic association between tumor necrosis factor alpha and the severity of sleep disturbance and morning fatigue. Aouizerat BE et al. 2009 Biological research for nursing
19438866 Polymorphisms in genes involved in DNA repair, cell growth, oxidative stress and inflammatory response, and melanoma risk. Gu F et al. 2009 The British journal of dermatology
19478423 Cytokine response to vitamin E supplementation is dependent on pre-supplementation cytokine levels. Belisle SE et al. 2008 BioFactors (Oxford, England)
19505919 Toll-like receptor signaling pathway variants and prostate cancer mortality. Stark JR et al. 2009 Cancer epidemiology, biomarkers & prevention
19559392 A candidate gene association study of 77 polymorphisms in migraine. Schürks M et al. 2009 The journal of pain
19615068 The role of TNF genetic variants and the interaction with cigarette smoking for gastric cancer risk: a nested case-control study. Yang JJ et al. 2009 BMC cancer
19654554 The major histocompatibility complex conserved extended haplotype 8.1 in AIDS-related non-Hodgkin lymphoma. Aissani B et al. 2009 Journal of acquired immune deficiency syndromes (1999)
19661089 Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China. Hussain SK et al. 2009 Cancer epidemiology, biomarkers & prevention
19673019 IL-10 and TNF-alpha promoter haplotypes are associated with childhood Crohn's disease location. Sanchez R et al. 2009 World journal of gastroenterology
19700502 Synopsis and synthesis of candidate-gene association studies in chronic lymphocytic leukemia: the CUMAGAS-CLL information system. Zintzaras E et al. 2009 American journal of epidemiology
19732761 Tumor necrosis factor alpha (TNF-alpha) polymorphisms in Chinese patients with Graves' disease. Gu LQ et al. 2010 Clinical biochemistry
19773451 Role of inflammation gene polymorphisms on pain severity in lung cancer patients. Reyes-Gibby CC et al. 2009 Cancer epidemiology, biomarkers & prevention
19933216 The COPD genetic association compendium: a comprehensive online database of COPD genetic associations. Castaldi PJ et al. 2010 Human molecular genetics
19934104 Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations. Attur M et al. 2010 Annals of the rheumatic diseases
19951401 Chronic obstructive pulmonary disease: towards pharmacogenetics. Wood AM et al. 2009 Genome medicine
20007930 A functional haplotype in the 3'untranslated region of TNFRSF1B is associated with tuberculosis in two African populations. Möller M et al. 2010 American journal of respiratory and critical care medicine
20012999 The cancer anorexia/weight loss syndrome: exploring associations with single nucleotide polymorphisms (SNPs) of inflammatory cytokines in patients with non-small cell lung cancer. Jatoi A et al. 2010 Supportive care in cancer
20031567 An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study. Zee RY et al. 2009 Circulation. Cardiovascular genetics
20047977 Tumor necrosis factor (TNF) and lymphotoxin-alpha (LTA) polymorphisms and risk of non-Hodgkin lymphoma in the InterLymph Consortium. Skibola CF et al. 2010 American journal of epidemiology
20049212 Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS). Castro-Giner F et al. 2009 Environmental health perspectives
20080841 Additive effect of polymorphisms in the IL-6, LTA, and TNF-{alpha} genes and plasma fatty acid level modulate risk for the metabolic syndrome and its components. Phillips CM et al. 2010 The Journal of clinical endocrinology and metabolism
20083555 Commonly studied polymorphisms in inflammatory cytokine genes show only minor effects on mortality and related risk factors in nonagenarians. Dato S et al. 2010 The journals of gerontology. Series A, Biological sciences and medical sciences
20087644 Genetic variation in chromosomal translocation breakpoint and immune function genes and risk of non-Hodgkin lymphoma. Fernberg P et al. 2010 Cancer causes & control
20112337 Single nucleotide polymorphisms of 8 inflammation-related genes and their associations with smoking-related cancers. Oh SS et al. 2010 International journal of cancer
20113413 Cytokine polymorphism in patients with migraine: some suggestive clues of migraine and inflammation. Yilmaz IA et al. 2010 Pain medicine (Malden, Mass.)
20132806 Study of TNFalpha -308G/A and IL6 -174G/C polymorphisms in type 2 diabetes and obesity risk in the Tunisian population. Bouhaha R et al. 2010 Clinical biochemistry
20157068 Association of IL1A, IL1B, and TNF gene polymorphisms with chronic rhinosinusitis with and without nasal polyposis: A replication study. Mfuna Endam L et al. 2010 Archives of otolaryngology--head & neck surgery
20177654 Obesity-dependent association of TNF-LTA locus with type 2 diabetes in North Indians. Mahajan A et al. 2010 Journal of molecular medicine (Berlin, Germany)
20206339 Tumor necrosis factor alpha gene variants do not display allelic imbalance in circulating myeloid cells. Wienzek S et al. 2010 Cellular immunology
20227257 Polymorphisms in the platelet-specific collagen receptor GP6 are associated with risk of nonfatal myocardial infarction in Caucasians. Shaffer JR et al. 2011 Nutrition, metabolism, and cardiovascular diseases
20357201 Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma. Fan BJ et al. 2010 Investigative ophthalmology & visual science
20357209 Molecular genetic studies of gene identification for osteoporosis: the 2009 update. Xu XH et al. 2010 Endocrine reviews
20361391 The rs1800629 polymorphism in the TNF gene interacts with physical activity on the changes in C-reactive protein levels in the Finnish Diabetes Prevention Study. Kilpeläinen TO et al. 2010 Experimental and clinical endocrinology & diabetes
20396431 Genotyping sleep disorders patients. Kripke DF et al. 2010 Psychiatry investigation
20401335 Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype. Driss A et al. 2009 Genomics insights
20417488 Association of fetal inflammation and coagulation pathway gene polymorphisms with neurodevelopmental delay at age 2 years. Clark EA et al. 2010 American journal of obstetrics and gynecology
20418110 Polymorphisms in cytokine genes and serum cytokine levels among New Mexican women with and without breast cancer. Erdei E et al. 2010 Cytokine
20431935 Polymorphisms in inflammatory genes, plasma antioxidants, and prostate cancer risk. Zhang J et al. 2010 Cancer causes & control
20459604 Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes. Boraska V et al. 2010 BMC medical genetics
20461113 A screening methodology based on Random Forests to improve the detection of gene-gene interactions. De Lobel L et al. 2010 European journal of human genetics
20463618 Role of polymorphic variants as genetic modulators of infection in neonatal sepsis. Abu-Maziad A et al. 2010 Pediatric research
20473875 Association of haplotypes of inflammation-related genes with gastric preneoplastic lesions in African Americans and Caucasians. Zabaleta J et al. 2011 International journal of cancer
20564140 Relationship between cytokine gene single nucleotide polymorphisms and symptom burden and quality of life in lung cancer survivors. Rausch SM et al. 2010 Cancer
20565774 Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. Cross DS et al. 2010 BMC genetics
20570482 Preliminary evidence of an association between a functional interleukin-6 polymorphism and fatigue and sleep disturbance in oncology patients and their family caregivers. Miaskowski C et al. 2010 Journal of pain and symptom management
20578265 Carriage of a tumor necrosis factor polymorphism amplifies the cytotoxic T-lymphocyte antigen 4 attributed risk of primary biliary cirrhosis: evidence for a gene-gene interaction. Juran BD et al. 2010 Hepatology (Baltimore, Md.)
20605164 Gene-gene-sex interaction in cytokine gene polymorphisms revealed by serum interferon alpha phenotype in juvenile dermatomyositis. Niewold TB et al. 2010 The Journal of pediatrics
20638243 Update on the genetics and genomics of PBC. Juran BD et al. 2010 Journal of autoimmunity
20639881 Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32. Conde L et al. 2010 Nature genetics
20650301 Association of TNF, MBL, and VDR polymorphisms with leprosy phenotypes. Sapkota BR et al. 2010 Human immunology
20662065 Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. Clancy RM et al. 2010 Arthritis and rheumatism
20668555 Extended LTA, TNF, LST1 and HLA gene haplotypes and their association with rubella vaccine-induced immunity. Ovsyannikova IG et al. 2010 PloS one
20682333 Associations between the tumor necrosis factor alpha gene (-308G→A) and event-related potential indices of attention and mental rotation. Beste C et al. 2010 Neuroscience
20693638 An association study of 21 potential Alzheimer's disease risk genes in a Finnish population. Sarajärvi T et al. 2010 Journal of Alzheimer's disease
20711808 Polymorphisms in oxidative stress and inflammation pathway genes, low-dose ionizing radiation, and the risk of breast cancer among US radiologic technologists. Schonfeld SJ et al. 2010 Cancer causes & control
20725607 CCL3 genotype and current depression increase risk of HIV-associated dementia. Levine AJ et al. 2009 Neurobehavioral HIV medicine
20796230 Tumour necrosis factor-alpha gene polymorphisms and susceptibility to oral lichen planus. Kimkong I et al. 2011 Oral diseases
20810691 Variations in the TNF-α gene (TNF-α -308G→A) affect attention and action selection mechanisms in a dissociated fashion. Beste C et al. 2010 Journal of neurophysiology
20811626 Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer. Hildebrandt MA et al. 2010 PloS one
20816195 Analyses of shared genetic factors between asthma and obesity in children. Melén E et al. 2010 The Journal of allergy and clinical immunology
20827186 Defining genetic risk for graft-versus-host disease and mortality following allogeneic hematopoietic stem cell transplantation. Hansen JA et al. 2010 Current opinion in hematology
20846669 TNF-α gene polymorphisms and excessive daytime sleepiness in pediatric obstructive sleep apnea. Khalyfa A et al. 2011 The Journal of pediatrics
20878356 Role of ethnic variations in TNF-α and TNF-β polymorphisms and risk of breast cancer in India. Pooja S et al. 2011 Breast cancer research and treatment
20923569 Associations between SNPs in candidate immune-relevant genes and rubella antibody levels: a multigenic assessment. Pankratz VS et al. 2010 BMC immunology
20952689 Cytokine polymorphisms in Th1/Th2 pathway genes, body mass index, and risk of non-Hodgkin lymphoma. Chen Y et al. 2011 Blood
20965572 Interplay of cytokine polymorphisms and bacterial vaginosis in the etiology of preterm delivery. Jones NM et al. 2010 Journal of reproductive immunology
21029472 A study of the TNF/LTA/LTB locus and susceptibility to severe malaria in highland papuan children and adults. Randall LM et al. 2010 Malaria journal
21039421 Treatment of rheumatoid arthritis with tumour necrosis factor inhibitors. Mewar D et al. 2011 British journal of pharmacology
21054877 Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994. Ned RM et al. 2010 BMC medical genetics
21080879 A study of TNF-alpha-238 and -308 polymorphisms with different outcomes of persistent hepatitis B virus infection in China. Wang B et al. 2010 Pathology
21085187 Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. Birlea SA et al. 2011 The Journal of investigative dermatology
21103062 Unifying candidate gene and GWAS Approaches in Asthma. Michel S et al. 2010 PloS one
21148756 Variations in chromosomes 9 and 6p21.3 with risk of non-Hodgkin lymphoma. Wang SS et al. 2011 Cancer epidemiology, biomarkers & prevention
21149504 Common variations in the genes encoding C-reactive protein, tumor necrosis factor-alpha, and interleukin-6, and the risk of clinical diabetes in the Women's Health Initiative Observational Study. Chan KH et al. 2011 Clinical chemistry
21160888 Genetic predisposition to Helicobacter pylori-induced gastric precancerous conditions. Hishida A et al. 2010 World journal of gastrointestinal oncology
21178102 Polymorphisms in inflammatory response genes and their association with gastric cancer: A HuGE systematic review and meta-analyses. Persson C et al. 2011 American journal of epidemiology
21291465 The association of genetic polymorphisms with cerebral palsy: a meta-analysis. Wu D et al. 2011 Developmental medicine and child neurology
21297263 Genetic association of sequence variants near AGER/NOTCH4 and dementia. Bennet AM et al. 2011 Journal of Alzheimer's disease
21315679 Green tea consumption, inflammation and the risk of primary hepatocellular carcinoma in a Chinese population. Li Y et al. 2011 Cancer epidemiology
21320344 Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population. Joubert BR et al. 2011 BMC medical genetics
21333900 The role of genetics in IBS. Saito YA et al. 2011 Gastroenterology clinics of North America
21357384 Polymorphisms in the TNF-α and IL10 gene promoters and risk of arsenic-induced skin lesions and other nondermatological health effects. Banerjee N et al. 2011 Toxicological sciences
21385363 Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study. Emonts M et al. 2011 BMC medical genetics
21420089 TNFA -308 (rs1800629) polymorphism is associated with a higher risk of cardiovascular disease in patients with rheumatoid arthritis. Rodríguez-Rodríguez L et al. 2011 Atherosclerosis
21437087 Type 2 diabetes mellitus and inflammation: Prospects for biomarkers of risk and nutritional intervention. Badawi A et al. 2010 Diabetes, metabolic syndrome and obesity
21447951 Association of inflammation genes with alcohol dependence/abuse: a systematic review and a meta-analysis. Kebir O et al. 2011 European addiction research
21448414 Molecular mechanism of glucocorticoid resistance in inflammatory bowel disease. De Iudicibus S et al. 2011 World journal of gastroenterology
21450487 Tumor necrosis factor-α -863 C/A promoter polymorphism affects the inflammatory response after cardiac surgery. Boehm J et al. 2011 European journal of cardio-thoracic surgery
21514219 Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Zhang B et al. 2011 The Lancet. Oncology
21515823 Genetic predictors for stroke in children with sickle cell anemia. Flanagan JM et al. 2011 Blood
21523452 Genetic variation in proinflammatory cytokines IL6, IL6R, TNF-region, and TNFRSF1A and risk of breast cancer. Madeleine MM et al. 2011 Breast cancer research and treatment
21533074 GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma. Smedby KE et al. 2011 PLoS genetics
21606320 Genetic associations with sporadic neuroendocrine tumor risk. Ter-Minassian M et al. 2011 Carcinogenesis
21609779 Association of TNF-α and IL-10 polymorphisms with tuberculosis in Tunisian populations. Ben-Selma W et al. 2011 Microbes and infection
21621860 Association of IL1A, IL1B, ILRN, IL6, IL10 and TNF-α polymorphisms with risk and clinical course of multiple sclerosis in a Polish population. Mirowska-Guzel D et al. 2011 Journal of neuroimmunology
21658295 Recent advances in the immunogenetics of idiopathic inflammatory myopathy. Chinoy H et al. 2011 Arthritis research & therapy
21659962 Replication of genetic associations in the inflammation, complement, and coagulation pathways with intraventricular hemorrhage in LBW preterm neonates. Ryckman KK et al. 2011 Pediatric research
21670964 Association between TNF-α polymorphisms and cervical cancer risk: a meta-analysis. Liu L et al. 2012 Molecular biology reports
21686124 Design and validity of a clinic-based case-control study on the molecular epidemiology of lymphoma. Cerhan JR et al. 2011 International journal of molecular epidemiology and genetics
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30781715 Genetic Epidemiology of Breast Cancer in Latin America. Zavala VA et al. 2019 Genes
30792445 Polymorphisms of cytokine genes and tuberculosis in two independent studies. Wu S et al. 2019 Scientific reports
30793520 Cumulative evidence for association between genetic polymorphisms and esophageal cancer susceptibility: A review with evidence from meta-analysis and genome-wide association studies. Tian J et al. 2019 Cancer medicine
30813952 Genetic variability of inflammation and oxidative stress genes does not play a major role in the occurrence of adverse events of dopaminergic treatment in Parkinson's disease. Redenšek S et al. 2019 Journal of neuroinflammation
30815272 Genetic polymorphisms in tumour necrosis factor receptors (<i>TNFRSF1A/1B</i>) illustrate differential treatment response to TNFα inhibitors in patients with Crohn's disease. Qasem A et al. 2019 BMJ open gastroenterology
30843750 Genetic variants linked to folliculogenesis and successful pregnancy are not associated with twin births in a twins' town. Cardoso-Dos-Santos AC et al. 2020 The journal of maternal-fetal & neonatal medicine
30900134 TNF-α G-308A genetic variants, serum CRP-hs concentration and DNA damage in obese women. Włodarczyk M et al. 2020 Molecular biology reports
30916218 Association between tumor necrosis factor polymorphisms and rheumatoid arthritis as well as systemic lupus erythematosus: a meta-analysis. Chen L et al. 2019 Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
30923465 SNP variations in IL10, TNFα and TNFAIP3 genes in patients with dry eye syndrome and Sjogren's syndrome. Ben-Eli H et al. 2019 Journal of inflammation (London, England)
30954991 Association of TLR4 and TNF-a Gene Polymorphisms and TLR4 mRNA Levels in Preterm Birth in a Northern Indian Population. Awasthi S et al. 2019 Indian pediatrics
30967802 Understanding the Relation Between Early-Life Adversity and Depression Symptoms: The Moderating Role of Sex and an Interleukin-1β Gene Variant. McQuaid RJ et al. 2019 Frontiers in psychiatry
30970058 Determination of TNF-a Gene Polymorphisms on Skeletal Pattern in Class II Malocclusion. Levy SC et al. 2019 Brazilian dental journal
30973927 Single nucleotide polymorphism analysis in interstitial cystitis/painful bladder syndrome. Cassão VD et al. 2019 PloS one
31023072 Symptom Science: Advocating for Inclusion of Functional Genetic Polymorphisms. Knisely MR et al. 2019 Biological research for nursing
31026237 Increasing Levels of Serum Heat Shock Protein 70 Precede the Development of AIDS-Defining Non-Hodgkin Lymphoma Among Carriers of HLA-B8-DR3. Aissani B et al. 2019 Journal of acquired immune deficiency syndromes (1999)
31044631 Association between Genetic Polymorphisms of Inflammatory Response Genes and Acute Pancreatitis. Rodriguez-Nicolas A et al. 2019 Immunological investigations
31046486 The study of methylation and single nucleotide polymorphisms of cancer-related genes in patients with early-stage ulcerative colitis. Chen HX et al. 2019 Scandinavian journal of gastroenterology
31054364 Multilocus associations of inflammatory genes with the risk of type 1 diabetes. Timasheva YR et al. 2019 Gene
31063409 Relationship Between Genetic Polymorphisms of the <i>TNF</i> Gene and Hallux Valgus Susceptibility. Yang J et al. 2019 Genetic testing and molecular biomarkers
31071395 The role of TNF-α and TLR4 polymorphisms in the placenta of pregnant women complicated by preeclampsia and in silico analysis. Mohammadpour-Gharehbagh A et al. 2019 International journal of biological macromolecules
31092242 Polymorphisms in IL-10 and TGF-β gene promoter are associated with lower risk to gastric cancer in a Mexican population. Martínez-Campos C et al. 2019 BMC cancer
31129315 Systematic Review and Meta-Analysis of Genetic Risk of Developing Chronic Postsurgical Pain. Chidambaran V et al. 2020 The journal of pain
31132515 Association of TNF-α gene alterations (c.-238G&gt;A, c.-308G&gt;A, c.-857C&gt;T, c.-863C&gt;A) with primary glaucoma in north Indian cohort. Passan S et al. 2019 Gene
31148856 Investigation of Immunovascular Polymorphisms and Intersections in Psoriasis. Urganci BE et al. 2019 Indian journal of dermatology
31210414 Association study of genetic variations of inflammatory biomarkers with susceptibility and severity of obstructive sleep apnea. Zhang Z et al. 2019 Molecular genetics & genomic medicine
31231424 Genetic and Epigenetic Studies in Diabetic Kidney Disease. Gu HF et al. 2019 Frontiers in genetics
31260854 TNF-α -308 G/A variant and susceptibility to chronic obstructive pulmonary disease: A systematic review and meta-analysis. Salimi Asl M et al. 2019 Cytokine
31261506 TLR4/NF-κB signaling pathway gene single nucleotide polymorphisms alter gene expression levels and affect ARDS occurrence and prognosis outcomes. Ding Y et al. 2019 Medicine
31272196 Cytokine Genetic Variants and Health-Related Quality of Life in Crohn's Disease: An Exploratory Study. Knisely MR et al. 2019 Biological research for nursing
31324728 Association study of a functional variant of TNF-α gene and serum TNF-α level with the susceptibility of congenital heart disease in a Chinese population. Pan J et al. 2019 Postgraduate medical journal
31342641 Single-nucleotide polymorphisms associated with pemphigus vulgaris: Potent markers for better treatment and personalized medicine. Mahmoudi H et al. 2020 International journal of immunogenetics
31350695 Year-Long Rhinovirus Infection is Influenced by Atmospheric Conditions, Outdoor Air Virus Presence, and Immune System-Related Genetic Polymorphisms. Rodrigues AF et al. 2019 Food and environmental virology
31373163 Cytokine rs361525, rs1800750, rs1800629, rs1800896, rs1800872, rs1800795, rs1800470, and rs2430561 SNPs in relation with prognostic factors in acute myeloid leukemia. Bănescu C et al. 2019 Cancer medicine
31396258 Host Genetics of Cytomegalovirus Pathogenesis. Sezgin E et al. 2019 Frontiers in genetics
31454695 Gene polymorphisms and circulating levels of the TNF-alpha are associated with ischemic stroke: A meta-analysis based on 19,873 individuals. Wu JC et al. 2019 International immunopharmacology
31479868 Association of single nucleotide polymorphisms in TNFA and CCR5 genes with Japanese Encephalitis: A study from an endemic region of North India. Deval H et al. 2019 Journal of neuroimmunology
31594215 Association between tumor necrosis factor-alpha gene rs1800629 (-308G/A) and rs361525 (-238G &gt; A) polymorphisms and prostate cancer risk in an Iranian cohort. Alidoost S et al. 2020 Human antibodies
31615448 Candidate single nucleotide polymorphisms of irritable bowel syndrome: a systemic review and meta-analysis. Zhu S et al. 2019 BMC gastroenterology
31624424 Association of the TNF-<i>α</i> -308G/A polymorphism with lipid profile changes in response to aerobic training program. Leońska-Duniec A et al. 2019 Biology of sport
31652851 The Association of Serum TNF-α Levels and Blood Multi-Elements Modified by TNF-α Gene Polymorphisms in Metal Industrial Workers. Chen TH et al. 2019 International journal of environmental research and public health
31738572 Genetic Distribution of the <i>LTA</i> +252 A&gt;G and <i>TNFA</i> -308 G &gt; A Polymorphisms in the Moroccan Population. Aznag FZ et al. 2019 Genetic testing and molecular biomarkers
31816580 Association between polymorphisms of cytokine genes and brucellosis: A comprehensive systematic review and meta-analysis. Zafari P et al. 2020 Cytokine
31817071 Polymorphisms in <i>TNF Receptor Superfamily 1B</i> (<i>TNFRSF1B:rs3397</i>) are Linked to <i>Mycobacterium avium paratuberculosis</i> Infection and Osteoporosis in Rheumatoid Arthritis. Naser A et al. 2019 Microorganisms
31819588 Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case-Control Study. Al-Eitan LN et al. 2019 The application of clinical genetics
31861518 Genetic Associations with Aging Muscle: A Systematic Review. Pratt J et al. 2019 Cells
31884867 Association of TNF-<i>α</i> rs1800629, CASP3 rs72689236 and FCGR2A rs1801274 Polymorphisms with Susceptibility to Kawasaki Disease: A Comprehensive Meta-Analysis. Ferdosian F et al. 2019 Fetal and pediatric pathology
31886296 Impact of SNPs/Haplotypes of <i>IL10</i> and <i>IFNG</i> on the Development of Diffuse Large B-Cell Lymphoma. Marangon AV et al. 2019 Journal of immunology research
31887189 Important gene-gene interaction of TNF-α and VDR on osteoporosis in community-dwelling elders. Liao LN et al. 2019 PloS one
31912349 Preliminary Study of the Impact of Single-Nucleotide Polymorphisms of IL-1α, IL-1β and TNF-α Genes on the Occurrence, Severity and Treatment Effectiveness of the Major Depressive Disorder. Bialek K et al. 2020 Cellular and molecular neurobiology
31936215 Modelling the Effects of MCM7 Variants, Somatic Mutations, and Clinical Features on Acute Myeloid Leukemia Susceptibility and Prognosis. Tripon F et al. 2020 Journal of clinical medicine
31943768 Association of hepatocellular carcinoma risk with polymorphisms in tumour necrosis factor alpha gene in a Chinese Han population. Yue X et al. 2020 International journal of immunogenetics
31983162 Association between PSCA, TNF-α, PARP1 and TP53 Gene Polymorphisms and Gastric Cancer Susceptibility in the Brazilian Population. Dantas RN et al. 2020 Asian Pacific journal of cancer prevention
32074604 Association Analysis of Tumor Necrosis Factor Alpha Promoter Polymorphisms and Vitiligo Susceptibility in South Indian Tamils. Rajendiran KS et al. 2020 Dermatology (Basel, Switzerland)
32083395 Genetic variants in rheumatic fever and rheumatic heart disease. Muhamed B et al. 2020 American journal of medical genetics. Part C, Seminars in medical genetics
32115620 Associations of TNF-α -308 G&gt;A and TNF-β 252 A&gt;G with Physical Function and BNP-Rugao Longevity and Ageing Study. Yao S et al. 2020 The journal of nutrition, health & aging
32124801 SNPs and transcriptional activity of genes of innate and adaptive immunity at the maternal-fetal interface in woman with preterm labour, associated with preterm premature rupture of membranes. Lyubomirskaya ES et al. 2020 Wiadomosci lekarskie (Warsaw, Poland
32130979 TNF-α polymorphisms might influence predisposition to periodontitis: A meta-analysis. Li Y et al. 2020 Microbial pathogenesis
32162036 Genetic polymorphisms and multiple myeloma risk: a meta-analysis. Zhang P et al. 2020 Annals of hematology
32186960 Study of the association of seventeen single nucleotide polymorphisms and their haplotypes in the <i>TNF-α, IL-2, IL-4</i> and <i>IL-10</i> genes with the antibody response to inactivated Japanese encephalitis vaccine. Yao Y et al. 2020 Human vaccines & immunotherapeutics

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

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post565+e32b82c