LNPEP c.19+18769C>T

Variant ID: 5-96290647-C-T

NM_005575.2(LNPEP):c.19+18769C>T

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Progress in the genetics of uveitis.

Genes And Immunity
Huang, Xiu-Feng XF; Brown, Matthew A MA
Publication Date: 2022-04

Variant appearance in text: rs7705093
PubMed Link: 35379982
Variant Present in the following documents:
  • Main text
  • 41435_2022_Article_168.pdf
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Pathogenesis of Non-Infectious Uveitis Elucidated by Recent Genetic Findings.

Frontiers In Immunology
Takeuchi, Masaki M; Mizuki, Nobuhisa N; Ohno, Shigeaki S
Publication Date: 2021

Variant appearance in text: rs7705093
PubMed Link: 33912164
Variant Present in the following documents:
  • Main text
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Interaction between ERAP Alleles and HLA Class I Types Support a Role of Antigen Presentation in Hodgkin Lymphoma Development.

Cancers
Jiang, Peijia P; Veenstra, Rianne N RN; Seitz, Annika A; Nolte, Ilja M IM; Hepkema, Bouke G BG; Visser, Lydia L; van den Berg, Anke A; Diepstra, Arjan A
Publication Date: 2021-01-22

Variant appearance in text: rs7705093
PubMed Link: 33499248
Variant Present in the following documents:
  • Main text
  • cancers-13-00414.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs7705093
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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Germline genetic polymorphisms influence tumor gene expression and immune cell infiltration.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lim, Yoong Wearn YW; Chen-Harris, Haiyin H; Mayba, Oleg O; Lianoglou, Steve S; Wuster, Arthur A; Bhangale, Tushar T; Khan, Zia Z; Mariathasan, Sanjeev S; Daemen, Anneleen A; Reeder, Jens J; Haverty, Peter M PM; Forrest, William F WF; Brauer, Matthew M; Mellman, Ira I; Albert, Matthew L ML
Publication Date: 2018-12-11

Variant appearance in text: rs7705093
PubMed Link: 30463956
Variant Present in the following documents:
  • pnas.1804506115.sapp.pdf
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The Expanding Landscape of Alternative Splicing Variation in Human Populations.

American Journal Of Human Genetics
Park, Eddie E; Pan, Zhicheng Z; Zhang, Zijun Z; Lin, Lan L; Xing, Yi Y
Publication Date: 2018-01-04

Variant appearance in text: rs7705093
PubMed Link: 29304370
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13

Variant appearance in text: rs7705093
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphism Relevant to Inflammatory Disease Shapes the Peptidome of the Birdshot Chorioretinopathy-Associated HLA-A*29:02 Antigen.

Molecular & Cellular Proteomics : Mcp
Alvarez-Navarro, Carlos C; Martín-Esteban, Adrian A; Barnea, Eilon E; Admon, Arie A; López de Castro, José A JA
Publication Date: 2015-07

Variant appearance in text: rs7705093
PubMed Link: 25892735
Variant Present in the following documents:
  • Main text
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A role for naturally occurring alleles of endoplasmic reticulum aminopeptidases in tumor immunity and cancer pre-disposition.

Frontiers In Oncology
Stratikos, Efstratios E; Stamogiannos, Athanasios A; Zervoudi, Efthalia E; Fruci, Doriana D
Publication Date: 2014

Variant appearance in text: rs7705093
PubMed Link: 25566501
Variant Present in the following documents:
  • Main text
  • fonc-04-00363.pdf
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A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.

Human Molecular Genetics
Kuiper, Jonas J W JJ; Van Setten, Jessica J; Ripke, Stephan S; Van 'T Slot, Ruben R; Mulder, Flip F; Missotten, Tom T; Baarsma, G Seerp GS; Francioli, Laurent C LC; Pulit, Sara L SL; De Kovel, Carolien G F CG; Ten Dam-Van Loon, Ninette N; Den Hollander, Anneke I AI; Huis in het Veld, Paulien P; Hoyng, Carel B CB; Cordero-Coma, Miguel M; Martín, Javier J; Llorenç, Victor V; Arya, Bharti B; Thomas, Dhanes D; Bakker, Steven C SC; Ophoff, Roel A RA; Rothova, Aniki A; De Bakker, Paul I W PI; Mutis, Tuna T; Koeleman, Bobby P C BP
Publication Date: 2014-11-15

Variant appearance in text: rs7705093
PubMed Link: 24957906
Variant Present in the following documents:
  • Main text
View BVdb publication page