Variant ID: 6-138195723-C-G

NM_001270507.1(TNFAIP3):c.296-259C>G

This variant was identified in 50 publications




Publications:


Identifying the culprits in neurological autoimmune diseases.

Journal Of Translational Autoimmunity
Y Acosta-Ampudia, DM Monsalve, C Ramírez-Santana
Publication Date: 2019-12

Variant appearance in text: rs5029939
PMID: 32743503
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Association of Epstein-Barr virus serological reactivation with transitioning to systemic lupus erythematosus in at-risk individuals.

Annals Of The Rheumatic Diseases
NR Jog, KA Young, ME Munroe, MT Harmon, JM Guthridge, JA Kelly, DL Kamen, GS Gilkeson, MH Weisman, DR Karp, PM Gaffney, JB Harley, DJ Wallace, JM Norris, JA James
Publication Date: 2019-09

Variant appearance in text: rs5029939
PMID: 31217170
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Lung Involvements in Rheumatic Diseases: Update on the Epidemiology, Pathogenesis, Clinical Features, and Treatment.

Biomed Research International
YJ Ha, YJ Lee, EH Kang
Publication Date: 2018

Variant appearance in text: rs5029939
PMID: 29854780
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Sex influences eQTL effects of SLE and Sjögren's syndrome-associated genetic polymorphisms.

Biology Of Sex Differences
M Lindén, JI Ramírez Sepúlveda, T James, GE Thorlacius, S Brauner, D Gómez-Cabrero, T Olsson, I Kockum, M Wahren-Herlenius
Publication Date: 2017-10-25

Variant appearance in text: rs5029939
PMID: 29070082
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Genetic and Functional Associations with Decreased Anti-inflammatory Tumor Necrosis Factor Alpha Induced Protein 3 in Macrophages from Subjects with Axial Spondyloarthritis.

Frontiers In Immunology
Y Liu, Z Ye, X Li, JL Anderson, M Khan, D DaSilva, M Baron, D Wilson, V Bocoun, LC Ivacic, SJ Schrodi, JA Smith
Publication Date: 2017

Variant appearance in text: rs5029939
PMID: 28791018
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Transancestral mapping and genetic load in systemic lupus erythematosus.

Nature Communications
CD Langefeld, HC Ainsworth, DS Cunninghame Graham, JA Kelly, ME Comeau, MC Marion, TD Howard, PS Ramos, JA Croker, DL Morris, JK Sandling, JC Almlöf, EM Acevedo-Vásquez, GS Alarcón, AM Babini, V Baca, AA Bengtsson, GA Berbotto, M Bijl, EE Brown, HI Brunner, MH Cardiel, L Catoggio, R Cervera, JM Cucho-Venegas, SR Dahlqvist, S D'Alfonso, BM Da Silva, I de la Rúa Figueroa, A Doria, JC Edberg, E Endreffy, JA Esquivel-Valerio, PR Fortin, BI Freedman, J Frostegård, MA García, IG de la Torre, GS Gilkeson, DD Gladman, I Gunnarsson, JM Guthridge, JL Huggins, JA James, CGM Kallenberg, DL Kamen, DR Karp, KM Kaufman, LC Kottyan, L Kovács, H Laustrup, BR Lauwerys, QZ Li, MA Maradiaga-Ceceña, J Martín, JM McCune, DR McWilliams, JT Merrill, P Miranda, JF Moctezuma, SK Nath, TB Niewold, L Orozco, N Ortego-Centeno, M Petri, CA Pineau, BA Pons-Estel, J Pope, P Raj, R Ramsey-Goldman, JD Reveille, LP Russell, JM Sabio, CA Aguilar-Salinas, HR Scherbarth, R Scorza, MF Seldin, C Sjöwall, E Svenungsson, SD Thompson, SMA Toloza, L Truedsson, T Tusié-Luna, C Vasconcelos, LM Vilá, DJ Wallace, MH Weisman, JE Wither, T Bhangale, JR Oksenberg, JD Rioux, PK Gregersen, AC Syvänen, L Rönnblom, LA Criswell, CO Jacob, KL Sivils, BP Tsao, LE Schanberg, TW Behrens, ED Silverman, ME Alarcón-Riquelme, RP Kimberly, JB Harley, EK Wakeland, RR Graham, PM Gaffney, TJ Vyse
Publication Date: 2017-07-17

Variant appearance in text: rs5029939
PMID: 28714469
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Inflammation-Related Gene Polymorphisms Associated With Primary Immune Thrombocytopenia.

Frontiers In Immunology
J Li, S Ma, L Shao, C Ma, C Gao, XH Zhang, M Hou, J Peng
Publication Date: 2017

Variant appearance in text: rs5029939
PMID: 28702029
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Unfolding the pathogenesis of scleroderma through genomics and epigenomics.

Journal Of Autoimmunity
PS Tsou, AH Sawalha
Publication Date: 2017-09

Variant appearance in text: rs5029939
PMID: 28526340
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TNFAIP3 gene rs7749323 polymorphism is associated with late onset myasthenia gravis.

Medicine
HW Yang, Y Xie, Y Zhao, L Sun, X Zhu, S Wang, YQ Zhang, P Lei, Y Meng
Publication Date: 2017-05

Variant appearance in text: rs5029939
PMID: 28514294
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Positive Association between ANKRD55 Polymorphism 7731626 and Dermatomyositis/Polymyositis with Interstitial Lung Disease in Chinese Han Population.

Biomed Research International
L Li, S Chen, X Wen, Q Wang, G Lv, J Li, F Yang, F Zhang, Y Li
Publication Date: 2017

Variant appearance in text: rs5029939
PMID: 28470010
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rs10499194 polymorphism in the tumor necrosis factor-α inducible protein 3 (TNFAIP3) gene is associated with type-1 autoimmune hepatitis risk in Chinese Han population.

Plos One
E Xu, H Cao, L Lin, H Liu
Publication Date: 2017

Variant appearance in text: rs5029939
PMID: 28448618
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A20 suppresses canonical Smad-dependent fibroblast activation: novel function for an endogenous inflammatory modulator.

Arthritis Research & Therapy
S Bhattacharyya, W Wang, LV Graham, J Varga
Publication Date: 2016-10-03

Variant appearance in text: rs5029939
PMID: 27716397
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Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity.

Elife
P Raj, E Rai, R Song, S Khan, BE Wakeland, K Viswanathan, C Arana, C Liang, B Zhang, I Dozmorov, F Carr-Johnson, M Mitrovic, GB Wiley, JA Kelly, BR Lauwerys, NJ Olsen, C Cotsapas, CK Garcia, CA Wise, JB Harley, SK Nath, JA James, CO Jacob, BP Tsao, C Pasare, DR Karp, QZ Li, PM Gaffney, EK Wakeland
Publication Date: 2016-02-15

Variant appearance in text: rs5029939
PMID: 26880555
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Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans.

Arthritis & Rheumatology (Hoboken, N.J.)
CJ Lessard, S Sajuthi, J Zhao, K Kim, JA Ice, H Li, H Ainsworth, A Rasmussen, JA Kelly, M Marion, SY Bang, YB Joo, J Choi, HS Lee, YM Kang, CH Suh, WT Chung, SK Lee, JY Choe, SC Shim, JH Oh, YJ Kim, BG Han, N Shen, HS Howe, EK Wakeland, QZ Li, YW Song, PM Gaffney, ME Alarcón-Riquelme, LA Criswell, CO Jacob, RP Kimberly, TJ Vyse, JB Harley, KL Sivils, SC Bae, CD Langefeld, BP Tsao
Publication Date: 2016-05

Variant appearance in text: rs5029939
PMID: 26663301
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Contribution of Genetic Factors to Sjögren's Syndrome and Sjögren's Syndrome Related Lymphomagenesis.

Journal Of Immunology Research
A Nezos, CP Mavragani
Publication Date: 2015

Variant appearance in text: rs5029939
PMID: 26550578
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Identification of an Association of TNFAIP3 Polymorphisms With Matrix Metalloproteinase Expression in Fibroblasts in an Integrative Study of Systemic Sclerosis-Associated Genetic and Environmental Factors.

Arthritis & Rheumatology (Hoboken, N.J.)
P Wei, Y Yang, X Guo, N Hei, S Lai, S Assassi, M Liu, F Tan, X Zhou
Publication Date: 2016-03

Variant appearance in text: rs5029939
PMID: 26474180
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Genetics, Epigenetics, and Genomics of Systemic Sclerosis.

Rheumatic Diseases Clinics Of North America
G Salazar, MD Mayes
Publication Date: 2015-08

Variant appearance in text: rs5029939
PMID: 26210123
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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

American Journal Of Human Genetics
T Groza, S Köhler, D Moldenhauer, N Vasilevsky, G Baynam, T Zemojtel, LM Schriml, WA Kibbe, PN Schofield, T Beck, D Vasant, AJ Brookes, A Zankl, NL Washington, CJ Mungall, SE Lewis, MA Haendel, H Parkinson, PN Robinson
Publication Date: 2015-07-02

Variant appearance in text: rs5029939
PMID: 26119816
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Pathogenesis of Systemic Sclerosis.

Frontiers In Immunology
D Pattanaik, M Brown, BC Postlethwaite, AE Postlethwaite
Publication Date: 2015

Variant appearance in text: rs5029939
PMID: 26106387
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Recent advances in the genetics of systemic sclerosis: toward biological and clinical significance.

Current Rheumatology Reports
BD Korman, LA Criswell
Publication Date: 2015-03

Variant appearance in text: rs5029939
PMID: 25777745
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Meta-analysis of the TNFAIP3 region in psoriasis reveals a risk haplotype that is distinct from other autoimmune diseases.

Genes And Immunity
J Nititham, KE Taylor, R Gupta, H Chen, R Ahn, J Liu, M Seielstad, A Ma, AM Bowcock, LA Criswell, M Stahle, W Liao
Publication Date: 2015-03

Variant appearance in text: rs5029939
PMID: 25521225
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Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population.

Plos One
S Chen, Q Wang, Z Wu, Y Li, P Li, F Sun, W Zheng, Q Wu, C Wu, C Deng, F Zhang, Y Li
Publication Date: 2014

Variant appearance in text: rs5029939
PMID: 25337792
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Systemic Sclerosis is a Complex Disease Associated Mainly with Immune Regulatory and Inflammatory Genes.

The Open Rheumatology Journal
J Jin, C Chou, M Lima, D Zhou, X Zhou
Publication Date: 2014

Variant appearance in text: rs5029939
PMID: 25328554
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Evaluation of SLE Susceptibility Genes in Malaysians.

Autoimmune Diseases
JE Molineros, KH Chua, C Sun, LH Lian, P Motghare, X Kim-Howard, SK Nath
Publication Date: 2014

Variant appearance in text: rs5029939
PMID: 24696779
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Genetics of psoriasis and pharmacogenetics of biological drugs.

Autoimmune Diseases
R Prieto-Pérez, T Cabaleiro, E Daudén, D Ochoa, M Roman, F Abad-Santos
Publication Date: 2013

Variant appearance in text: rs5029939
PMID: 24069534
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Genetics of SLE: functional relevance for monocytes/macrophages in disease.

Clinical & Developmental Immunology
JC Byrne, J Ní Gabhann, E Lazzari, R Mahony, S Smith, K Stacey, C Wynne, CA Jefferies
Publication Date: 2012

Variant appearance in text: rs5029939
PMID: 23227085
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A20: linking a complex regulator of ubiquitylation to immunity and human disease.

Nature Reviews. Immunology
A Ma, BA Malynn
Publication Date: 2012-11

Variant appearance in text: rs5029939
PMID: 23059429
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Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients.

Annals Of The Rheumatic Diseases
S Viatte, D Plant, J Bowes, M Lunt, S Eyre, A Barton, J Worthington
Publication Date: 2012-12

Variant appearance in text: rs5029939
PMID: 22661644
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Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.

Journal Of Biomedicine & Biotechnology
JJ Connolly, H Hakonarson
Publication Date: 2012

Variant appearance in text: rs5029939
PMID: 22654485
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A general framework for two-stage analysis of genome-wide association studies and its application to case-control studies.

American Journal Of Human Genetics
JM Wason, F Dudbridge
Publication Date: 2012-05-04

Variant appearance in text: rs5029939
PMID: 22560088
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Lupus nephritis: an overview of recent findings.

Autoimmune Diseases
A de Zubiria Salgado, C Herrera-Diaz
Publication Date: 2012

Variant appearance in text: rs5029939
PMID: 22536486
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Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.

Human Molecular Genetics
JE Martin, JC Broen, FD Carmona, M Teruel, CP Simeon, MC Vonk, R van 't Slot, L Rodriguez-Rodriguez, E Vicente, V Fonollosa, N Ortego-Centeno, MA González-Gay, FJ García-Hernández, PG de la Peña, P Carreira, , AE Voskuyl, AJ Schuerwegh, PL van Riel, A Kreuter, T Witte, G Riemekasten, P Airo, R Scorza, C Lunardi, N Hunzelmann, JH Distler, L Beretta, J van Laar, MM Chee, J Worthington, A Herrick, C Denton, FK Tan, FC Arnett, S Assassi, C Fonseca, MD Mayes, TR Radstake, BP Koeleman, J Martin
Publication Date: 2012-06-15

Variant appearance in text: rs5029939
PMID: 22407130
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Sex-specific differences in the relationship between genetic susceptibility, T cell DNA demethylation and lupus flare severity.

Journal Of Autoimmunity
AH Sawalha, L Wang, A Nadig, EC Somers, WJ McCune, , T Hughes, JT Merrill, RH Scofield, FM Strickland, B Richardson
Publication Date: 2012-05

Variant appearance in text: rs5029939
PMID: 22305513
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A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap.

Plos Genetics
PS Ramos, LA Criswell, KL Moser, ME Comeau, AH Williams, NM Pajewski, SA Chung, RR Graham, R Zidovetzki, JA Kelly, KM Kaufman, CO Jacob, TJ Vyse, BP Tsao, RP Kimberly, PM Gaffney, ME Alarcón-Riquelme, JB Harley, CD Langefeld,
Publication Date: 2011-12

Variant appearance in text: rs5029939
PMID: 22174698
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Genetics of systemic sclerosis: an update.

Current Rheumatology Reports
JC Broen, MJ Coenen, TR Radstake
Publication Date: 2012-02

Variant appearance in text: rs5029939
PMID: 22102179
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Gene-gene interaction of BLK, TNFSF4, TRAF1, TNFAIP3, and REL in systemic lupus erythematosus.

Arthritis And Rheumatism
XJ Zhou, XL Lu, SK Nath, JC Lv, SN Zhu, HZ Yang, LX Qin, MH Zhao, Y Su, N Shen, ZG Li, H Zhang,
Publication Date: 2012-01

Variant appearance in text: rs5029939
PMID: 21905002
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ICSNPathway: identify candidate causal SNPs and pathways from genome-wide association study by one analytical framework.

Nucleic Acids Research
K Zhang, S Chang, S Cui, L Guo, L Zhang, J Wang
Publication Date: 2011-07

Variant appearance in text: rs5029939
PMID: 21622953
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Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus.

Nature Genetics
I Adrianto, F Wen, A Templeton, G Wiley, JB King, CJ Lessard, JS Bates, Y Hu, JA Kelly, KM Kaufman, JM Guthridge, ME Alarcón-Riquelme, , JM Anaya, SC Bae, SY Bang, SA Boackle, EE Brown, MA Petri, C Gallant, R Ramsey-Goldman, JD Reveille, LM Vila, LA Criswell, JC Edberg, BI Freedman, PK Gregersen, GS Gilkeson, CO Jacob, JA James, DL Kamen, RP Kimberly, J Martin, JT Merrill, TB Niewold, SY Park, BA Pons-Estel, RH Scofield, AM Stevens, BP Tsao, TJ Vyse, CD Langefeld, JB Harley, KL Moser, CF Webb, MB Humphrey, CG Montgomery, PM Gaffney
Publication Date: 2011-03

Variant appearance in text: rs5029939
PMID: 21336280
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Sequencing of TNFAIP3 and association of variants with multiple autoimmune diseases.

Genes And Immunity
SL Musone, KE Taylor, J Nititham, C Chu, A Poon, W Liao, ET Lam, A Ma, PY Kwok, LA Criswell
Publication Date: 2011-04

Variant appearance in text: rs5029939
PMID: 21326317
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Genetic susceptibility to systemic lupus erythematosus in the genomic era.

Nature Reviews. Rheumatology
Y Deng, BP Tsao
Publication Date: 2010-12

Variant appearance in text: rs5029939
PMID: 21060334
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Recent findings on genetics of systemic autoimmune diseases.

Current Opinion In Immunology
A Delgado-Vega, E Sánchez, S Löfgren, C Castillejo-López, ME Alarcón-Riquelme
Publication Date: 2010-12

Variant appearance in text: rs5029939
PMID: 20933377
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: rs5029939
PMID: 20876667
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Rare variation at the TNFAIP3 locus and susceptibility to rheumatoid arthritis.

Human Genetics
J Bowes, R Lawrence, S Eyre, K Panoutsopoulou, G Orozco, KS Elliott, X Ke, AP Morris, , W Thomson, J Worthington, A Barton, E Zeggini
Publication Date: 2010-12

Variant appearance in text: rs5029939
PMID: 20852893
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Association of TNFAIP3 polymorphism with susceptibility to systemic lupus erythematosus in a Japanese population.

Journal Of Biomedicine & Biotechnology
A Kawasaki, I Ito, S Ito, T Hayashi, D Goto, I Matsumoto, Y Takasaki, H Hashimoto, T Sumida, N Tsuchiya
Publication Date: 2010

Variant appearance in text: rs5029939
PMID: 20617138
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African-derived genetic polymorphisms in TNFAIP3 mediate risk for autoimmunity.

Journal Of Immunology (Baltimore, Md. : 1950)
JP Lodolce, LE Kolodziej, L Rhee, SN Kariuki, BS Franek, NM McGreal, MF Logsdon, SJ Bartulis, MA Perera, NA Ellis, EJ Adams, SB Hanauer, M Jolly, TB Niewold, DL Boone
Publication Date: 2010-06-15

Variant appearance in text: rs5029939
PMID: 20483768
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Genetics of rheumatic disease.

Arthritis Research & Therapy
A Clarke, TJ Vyse
Publication Date: 2009

Variant appearance in text: rs5029939
PMID: 19849816
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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Proceedings Of The National Academy Of Sciences Of The United States Of America
LA Hindorff, P Sethupathy, HA Junkins, EM Ramos, JP Mehta, FS Collins, TA Manolio
Publication Date: 2009-06-09

Variant appearance in text: rs5029939
PMID: 19474294
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Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations.

Genes And Immunity
JS Bates, CJ Lessard, JM Leon, T Nguyen, LJ Battiest, J Rodgers, KM Kaufman, JA James, GS Gilkeson, JA Kelly, MB Humphrey, JB Harley, C Gray-McGuire, KL Moser, PM Gaffney
Publication Date: 2009-07

Variant appearance in text: rs5029939
PMID: 19387456
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Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.

Nature Genetics
RP Nair, KC Duffin, C Helms, J Ding, PE Stuart, D Goldgar, JE Gudjonsson, Y Li, T Tejasvi, BJ Feng, A Ruether, S Schreiber, M Weichenthal, D Gladman, P Rahman, SJ Schrodi, S Prahalad, SL Guthery, J Fischer, W Liao, PY Kwok, A Menter, GM Lathrop, CA Wise, AB Begovich, JJ Voorhees, JT Elder, GG Krueger, AM Bowcock, GR Abecasis,
Publication Date: 2009-02

Variant appearance in text: rs5029939
PMID: 19169254
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Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.

Nature Genetics
RR Graham, C Cotsapas, L Davies, R Hackett, CJ Lessard, JM Leon, NP Burtt, C Guiducci, M Parkin, C Gates, RM Plenge, TW Behrens, JE Wither, JD Rioux, PR Fortin, DC Graham, AK Wong, TJ Vyse, MJ Daly, D Altshuler, KL Moser, PM Gaffney
Publication Date: 2008-09

Variant appearance in text: rs5029939
PMID: 19165918
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000237289.4 c.296-259C>G - intron_variant - 2/8
ENST00000420009.1 c.296-259C>G - intron_variant - 2/2
NM_001270507.2 c.296-259C>G - intron_variant - 2/8
NM_001270508.2 c.296-259C>G - intron_variant - 2/8
NM_006290.4 c.296-259C>G - intron_variant - 2/8