CIITA c.52+4072T>G

Variant ID: 16-10975311-T-G

NM_000246.3(CIITA):c.52+4072T>G

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4781011
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Pushing the Boundaries: Forensic DNA Phenotyping Challenged by Single-Cell Sequencing.

Genes
Diepenbroek, Marta M; Bayer, Birgit B; Anslinger, Katja K
Publication Date: 2021-08-30

Variant appearance in text: rs4781011
PubMed Link: 34573344
Variant Present in the following documents:
  • genes-12-01362.pdf
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Development and Evaluation of the Ancestry Informative Marker Panel of the VISAGE Basic Tool.

Genes
de la Puente, María M; Ruiz-Ramírez, Jorge J; Ambroa-Conde, Adrián A; Xavier, Catarina C; Pardo-Seco, Jacobo J; Álvarez-Dios, Jose J; Freire-Aradas, Ana A; Mosquera-Miguel, Ana A; Gross, Theresa E TE; Cheung, Elaine Y Y EYY; Branicki, Wojciech W; Nothnagel, Michael M; Parson, Walther W; Schneider, Peter M PM; Kayser, Manfred M; Carracedo, Ángel Á; Lareu, Maria Victoria MV; Phillips, Christopher C; On Behalf Of The Visage Consortium,
Publication Date: 2021-08-22

Variant appearance in text: rs4781011
PubMed Link: 34440458
Variant Present in the following documents:
  • Main text
  • genes-12-01284.pdf
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[Gene polymorphism in oral lichen planus].

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal Of Stomatology
Pan, Ying-Xiao YX; Guo, Da-Wei DW; Li, Xin X; Liu, Heng-Yi HY; Lu, Shu-Lai SL
Publication Date: 2020-12-01

Variant appearance in text: rs4781011
PubMed Link: 33377347
Variant Present in the following documents:
  • Main text
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Complex genetic signatures in immune cells underlie autoimmunity and inform therapy.

Nature Genetics
Orrù, Valeria V; Steri, Maristella M; Sidore, Carlo C; Marongiu, Michele M; Serra, Valentina V; Olla, Stefania S; Sole, Gabriella G; Lai, Sandra S; Dei, Mariano M; Mulas, Antonella A; Virdis, Francesca F; Piras, Maria Grazia MG; Lobina, Monia M; Marongiu, Mara M; Pitzalis, Maristella M; Deidda, Francesca F; Loizedda, Annalisa A; Onano, Stefano S; Zoledziewska, Magdalena M; Sawcer, Stephen S; Devoto, Marcella M; Gorospe, Myriam M; Abecasis, Gonçalo R GR; Floris, Matteo M; Pala, Mauro M; Schlessinger, David D; Fiorillo, Edoardo E; Cucca, Francesco F
Publication Date: 2020-10

Variant appearance in text: rs4781011
PubMed Link: 32929287
Variant Present in the following documents:
  • Main text
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DCDC2 READ1 regulatory element: how temporal processing differences may shape language.

Proceedings. Biological Sciences
Tang, Kevin K; DeMille, Mellissa M C MMC; Frijters, Jan C JC; Gruen, Jeffrey R JR
Publication Date: 2020-06-10

Variant appearance in text: rs4781011
PubMed Link: 32486976
Variant Present in the following documents:
  • rspb20192712supp1.pdf
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Association between variant alleles of major histocompatibility complex class II regulatory genes and nasopharyngeal carcinoma susceptibility.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)
Zhou, Ping P; Liu, Sha S; Ji, Nan-Nan NN; Zhang, Shuang S; Wang, Peng P; Lin, Bing B; Yang, Ping P; Lin, Xian-Tao XT; Cai, Yi-Zheng YZ; Wang, Zi-Ming ZM; Zhou, Han H; Sun, Shi-Yao SY; Hao, Xin-Bao XB
Publication Date: 2020-11

Variant appearance in text: rs4781011
PubMed Link: 31922974
Variant Present in the following documents:
  • Main text
  • ejcp-29-531.pdf
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Data on a genome-wide association study of type 2 diabetes in a Maya population.

Data In Brief
Totomoch-Serra, Armando A; Domínguez-Cruz, Miriam Givisay MG; Muñoz, María de Lourdes ML; García-Escalante, María Guadalupe MG; Burgueño, Juan J; Díaz-Badillo, Álvaro Á; Valadez-González, Nina N; Escalante, Doris Pinto DP
Publication Date: 2020-02

Variant appearance in text: rs4781011
PubMed Link: 31872004
Variant Present in the following documents:
  • Main text
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Immunochip Meta-Analysis of Inflammatory Bowel Disease Identifies Three Novel Loci and Four Novel Associations in Previously Reported Loci.

Journal Of Crohn'S & Colitis
Hong, Myunghee M; Ye, Byong Duk BD; Yang, Suk-Kyun SK; Jung, Seulgi S; Lee, Ho-Su HS; Kim, Byoung Mok BM; Lee, Soo Bin SB; Hong, Jeonghoon J; Baek, Jiwon J; Park, Sang Hyoung SH; Han, Buhm B; Li, Yi Y; Liu, Wenting W; Haritunians, Talin T; Taylor, Kent D KD; Rotter, Jerome I JI; Bang, So-Young SY; Kim, Tae-Hwan TH; McGovern, Dermot P B DPB; Liu, Jianjun J; Song, Kyuyoung K
Publication Date: 2018-05-25

Variant appearance in text: rs4781011
PubMed Link: 29584801
Variant Present in the following documents:
  • Main text
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Genome-Wide Analysis in Brazilians Reveals Highly Differentiated Native American Genome Regions.

Molecular Biology And Evolution
Mychaleckyj, Josyf C JC; Havt, Alexandre A; Nayak, Uma U; Pinkerton, Relana R; Farber, Emily E; Concannon, Patrick P; Lima, Aldo A AA; Guerrant, Richard L RL
Publication Date: 2017-03-01

Variant appearance in text: rs4781011
PubMed Link: 28100790
Variant Present in the following documents:
  • Main text
  • msw249.pdf
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Cis and trans effects of human genomic variants on gene expression.

Plos Genetics
Bryois, Julien J; Buil, Alfonso A; Evans, David M DM; Kemp, John P JP; Montgomery, Stephen B SB; Conrad, Donald F DF; Ho, Karen M KM; Ring, Susan S; Hurles, Matthew M; Deloukas, Panos P; Davey Smith, George G; Dermitzakis, Emmanouil T ET
Publication Date: 2014-07

Variant appearance in text: rs4781011
PubMed Link: 25010687
Variant Present in the following documents:
  • Main text
  • pgen.1004461.pdf
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Genetic variants regulating immune cell levels in health and disease.

Cell
Orrù, Valeria V; Steri, Maristella M; Sole, Gabriella G; Sidore, Carlo C; Virdis, Francesca F; Dei, Mariano M; Lai, Sandra S; Zoledziewska, Magdalena M; Busonero, Fabio F; Mulas, Antonella A; Floris, Matteo M; Mentzen, Wieslawa I WI; Urru, Silvana A M SA; Olla, Stefania S; Marongiu, Michele M; Piras, Maria G MG; Lobina, Monia M; Maschio, Andrea A; Pitzalis, Maristella M; Urru, Maria F MF; Marcelli, Marco M; Cusano, Roberto R; Deidda, Francesca F; Serra, Valentina V; Oppo, Manuela M; Pilu, Rosella R; Reinier, Frederic F; Berutti, Riccardo R; Pireddu, Luca L; Zara, Ilenia I; Porcu, Eleonora E; Kwong, Alan A; Brennan, Christine C; Tarrier, Brendan B; Lyons, Robert R; Kang, Hyun M HM; Uzzau, Sergio S; Atzeni, Rossano R; Valentini, Maria M; Firinu, Davide D; Leoni, Lidia L; Rotta, Gianluca G; Naitza, Silvia S; Angius, Andrea A; Congia, Mauro M; Whalen, Michael B MB; Jones, Chris M CM; Schlessinger, David D; Abecasis, Gonçalo R GR; Fiorillo, Edoardo E; Sanna, Serena S; Cucca, Francesco F
Publication Date: 2013-09-26

Variant appearance in text: rs4781011
PubMed Link: 24074872
Variant Present in the following documents:
  • Main text
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No evidence for association of Chr 9p21 variant rs1333049 with gout in New Zealand case-control sample sets.

Rheumatology (Oxford, England)
Hsu, Angela A; Dalbeth, Nicola N; Gow, Peter P; Harrison, Andrew A; Highton, John J; Jones, Peter B PB; Stamp, Lisa K LK; Merriman, Tony R TR
Publication Date: 2012-06

Variant appearance in text: rs4781011
PubMed Link: 22396608
Variant Present in the following documents:
  • Main text
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The rs4774 CIITA missense variant is associated with risk of systemic lupus erythematosus.

Genes And Immunity
Bronson, P G PG; Goldstein, B A BA; Ramsay, P P PP; Beckman, K B KB; Noble, J A JA; Lane, J A JA; Seldin, M F MF; Kelly, J A JA; Harley, J B JB; Moser, K L KL; Gaffney, P M PM; Behrens, T W TW; Criswell, L A LA; Barcellos, L F LF
Publication Date: 2011-12

Variant appearance in text: rs4781011
PubMed Link: 21614020
Variant Present in the following documents:
  • Main text
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Three ulcerative colitis susceptibility loci are associated with primary sclerosing cholangitis and indicate a role for IL2, REL, and CARD9.

Hepatology (Baltimore, Md.)
Janse, Marcel M; Lamberts, Laetitia E LE; Franke, Lude L; Raychaudhuri, Soumya S; Ellinghaus, Eva E; Muri Boberg, Kirsten K; Melum, Espen E; Folseraas, Trine T; Schrumpf, Erik E; Bergquist, Annika A; Björnsson, Einar E; Fu, Jingyuan J; Jan Westra, Harm H; Groen, Harry J M HJ; Fehrmann, Rudolf S N RS; Smolonska, Joanna J; van den Berg, Leonard H LH; Ophoff, Roel A RA; Porte, Robert J RJ; Weismüller, Tobias J TJ; Wedemeyer, Jochen J; Schramm, Christoph C; Sterneck, Martina M; Günther, Rainer R; Braun, Felix F; Vermeire, Severine S; Henckaerts, Liesbet L; Wijmenga, Cisca C; Ponsioen, Cyriel Y CY; Schreiber, Stefan S; Karlsen, Tom H TH; Franke, Andre A; Weersma, Rinse K RK
Publication Date: 2011-06

Variant appearance in text: rs4781011
PubMed Link: 21425313
Variant Present in the following documents:
  • Main text
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Genome-wide and follow-up studies identify CEP68 gene variants associated with risk of aspirin-intolerant asthma.

Plos One
Kim, Jeong-Hyun JH; Park, Byung-Lae BL; Cheong, Hyun Sub HS; Bae, Joon Seol JS; Park, Jong Sook JS; Jang, An Soo AS; Uh, Soo-Taek ST; Choi, Jae-Sung JS; Kim, Yong-Hoon YH; Kim, Mi-Kyeong MK; Choi, Inseon S IS; Cho, Sang Heon SH; Choi, Byoung Whui BW; Park, Choon-Sik CS; Shin, Hyoung Doo HD
Publication Date: 2010-11-03

Variant appearance in text: rs4781011
PubMed Link: 21072201
Variant Present in the following documents:
View BVdb publication page