PLEK c.42+6430T>C

Variant ID: 2-68598955-T-C

NM_002664.2(PLEK):c.42+6430T>C

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes.

Journal Of Human Genetics
Cerqueira, Juliana X M JXM; Saavalainen, Päivi P; Kurppa, Kalle K; Laurikka, Pilvi P; Huhtala, Heini H; Nykter, Matti M; L E Koskinen, Lotta L; Yohannes, Dawit A DA; Kilpeläinen, Elina E; Shcherban, Anastasia A; Palotie, Aarno A; Kaukinen, Katri K; Lindfors, Katri K
Publication Date: 2021-06

Variant appearance in text: rs17035378
PubMed Link: 33446885
Variant Present in the following documents:
  • 10038_2020_888_MOESM3_ESM.xlsx, sheet 1
  • 10038_2020_888_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: rs17035378
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Fine-mapping cis-regulatory variants in diverse human populations.

Elife
Tehranchi, Ashley A; Hie, Brian B; Dacre, Michael M; Kaplow, Irene I; Pettie, Kade K; Combs, Peter P; Fraser, Hunter B HB
Publication Date: 2019-01-16

Variant appearance in text: rs17035378
PubMed Link: 30650056
Variant Present in the following documents:
  • Main text
  • elife-39595.pdf
View BVdb publication page



Integration of VDR genome wide binding and GWAS genetic variation data reveals co-occurrence of VDR and NF-κB binding that is linked to immune phenotypes.

Bmc Genomics
Singh, Prashant K PK; van den Berg, Patrick R PR; Long, Mark D MD; Vreugdenhil, Angie A; Grieshober, Laurie L; Ochs-Balcom, Heather M HM; Wang, Jianmin J; Delcambre, Sylvie S; Heikkinen, Sami S; Carlberg, Carsten C; Campbell, Moray J MJ; Sucheston-Campbell, Lara E LE
Publication Date: 2017-02-06

Variant appearance in text: rs17035378
PubMed Link: 28166722
Variant Present in the following documents:
  • Main text
  • 12864_2017_Article_3481.pdf
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A Polymorphic Antioxidant Response Element Links NRF2/sMAF Binding to Enhanced MAPT Expression and Reduced Risk of Parkinsonian Disorders.

Cell Reports
Wang, Xuting X; Campbell, Michelle R MR; Lacher, Sarah E SE; Cho, Hye-Youn HY; Wan, Ma M; Crowl, Christopher L CL; Chorley, Brian N BN; Bond, Gareth L GL; Kleeberger, Steven R SR; Slattery, Matthew M; Bell, Douglas A DA
Publication Date: 2016-04-26

Variant appearance in text: rs17035378
PubMed Link: 27149848
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Non-HLA Genes Associated with Celiac Disease and Country-Specific Differences in a Large, International Pediatric Cohort.

Plos One
Sharma, Ashok A; Liu, Xiang X; Hadley, David D; Hagopian, William W; Liu, Edwin E; Chen, Wei-Min WM; Onengut-Gumuscu, Suna S; Simell, Ville V; Rewers, Marian M; Ziegler, Anette-G AG; Lernmark, Åke Å; Simell, Olli O; Toppari, Jorma J; Krischer, Jeffrey P JP; Akolkar, Beena B; Rich, Stephen S SS; Agardh, Daniel D; She, Jin-Xiong JX; ,
Publication Date: 2016

Variant appearance in text: rs17035378
PubMed Link: 27015091
Variant Present in the following documents:
  • Main text
  • pone.0152476.pdf
View BVdb publication page



Heritability and genomics of gene expression in peripheral blood.

Nature Genetics
Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI
Publication Date: 2014-05

Variant appearance in text: rs17035378
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.pdf
View BVdb publication page



Common risk alleles for inflammatory diseases are targets of recent positive selection.

American Journal Of Human Genetics
Raj, Towfique T; Kuchroo, Manik M; Replogle, Joseph M JM; Raychaudhuri, Soumya S; Stranger, Barbara E BE; De Jager, Philip L PL
Publication Date: 2013-04-04

Variant appearance in text: rs17035378
PubMed Link: 23522783
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple common variants for celiac disease influencing immune gene expression.

Nature Genetics
Dubois, Patrick C A PC; Trynka, Gosia G; Franke, Lude L; Hunt, Karen A KA; Romanos, Jihane J; Curtotti, Alessandra A; Zhernakova, Alexandra A; Heap, Graham A R GA; Adány, Róza R; Aromaa, Arpo A; Bardella, Maria Teresa MT; van den Berg, Leonard H LH; Bockett, Nicholas A NA; de la Concha, Emilio G EG; Dema, Bárbara B; Fehrmann, Rudolf S N RS; Fernández-Arquero, Miguel M; Fiatal, Szilvia S; Grandone, Elvira E; Green, Peter M PM; Groen, Harry J M HJ; Gwilliam, Rhian R; Houwen, Roderick H J RH; Hunt, Sarah E SE; Kaukinen, Katri K; Kelleher, Dermot D; Korponay-Szabo, Ilma I; Kurppa, Kalle K; MacMathuna, Padraic P; Mäki, Markku M; Mazzilli, Maria Cristina MC; McCann, Owen T OT; Mearin, M Luisa ML; Mein, Charles A CA; Mirza, Muddassar M MM; Mistry, Vanisha V; Mora, Barbara B; Morley, Katherine I KI; Mulder, Chris J CJ; Murray, Joseph A JA; Núñez, Concepción C; Oosterom, Elvira E; Ophoff, Roel A RA; Polanco, Isabel I; Peltonen, Leena L; Platteel, Mathieu M; Rybak, Anna A; Salomaa, Veikko V; Schweizer, Joachim J JJ; Sperandeo, Maria Pia MP; Tack, Greetje J GJ; Turner, Graham G; Veldink, Jan H JH; Verbeek, Wieke H M WH; Weersma, Rinse K RK; Wolters, Victorien M VM; Urcelay, Elena E; Cukrowska, Bozena B; Greco, Luigi L; Neuhausen, Susan L SL; McManus, Ross R; Barisani, Donatella D; Deloukas, Panos P; Barrett, Jeffrey C JC; Saavalainen, Paivi P; Wijmenga, Cisca C; van Heel, David A DA
Publication Date: 2010-04

Variant appearance in text: rs17035378
PubMed Link: 20190752
Variant Present in the following documents:
  • Main text
View BVdb publication page