PUS10 c.468+9433G>A

Variant ID: 2-61224259-C-T

NM_144709.2(PUS10):c.468+9433G>A

This variant was identified in 11 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: rs10181042
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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GWAS of peptic ulcer disease implicates Helicobacter pylori infection, other gastrointestinal disorders and depression.

Nature Communications
Wu, Yeda Y; Murray, Graham K GK; Byrne, Enda M EM; Sidorenko, Julia J; Visscher, Peter M PM; Wray, Naomi R NR
Publication Date: 2021-02-19

Variant appearance in text: rs10181042
PubMed Link: 33608531
Variant Present in the following documents:
  • 41467_2021_21280_MOESM1_ESM.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: rs10181042
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci.

Human Molecular Genetics
Castaldi, Peter J PJ; Cho, Michael H MH; Zhou, Xiaobo X; Qiu, Weiliang W; Mcgeachie, Michael M; Celli, Bartolome B; Bakke, Per P; Gulsvik, Amund A; Lomas, David A DA; Crapo, James D JD; Beaty, Terri H TH; Rennard, Stephen S; Harshfield, Benjamin B; Lange, Christoph C; Singh, Dave D; Tal-Singer, Ruth R; Riley, John H JH; Quackenbush, John J; Raby, Benjamin A BA; Carey, Vincent J VJ; Silverman, Edwin K EK; Hersh, Craig P CP
Publication Date: 2015-02-15

Variant appearance in text: rs10181042
PubMed Link: 25315895
Variant Present in the following documents:
  • Main text
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Genetic comorbidities in Parkinson's disease.

Human Molecular Genetics
Nalls, Mike A MA; Saad, Mohamad M; Noyce, Alastair J AJ; Keller, Margaux F MF; Schrag, Anette A; Bestwick, Jonathan P JP; Traynor, Bryan J BJ; Gibbs, J Raphael JR; Hernandez, Dena G DG; Cookson, Mark R MR; Morris, Huw R HR; Williams, Nigel N; Gasser, Thomas T; Heutink, Peter P; Wood, Nick N; Hardy, John J; Martinez, Maria M; Singleton, Andrew B AB; , ; , ; , ; ,
Publication Date: 2014-02-01

Variant appearance in text: rs10181042
PubMed Link: 24057672
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel approach to detect cumulative genetic effects and genetic interactions in Crohn's disease.

Inflammatory Bowel Diseases
Wang, Ming-Hsi MH; Fiocchi, Claudio C; Ripke, Stephan S; Zhu, Xiaofeng X; Duerr, Richard H RH; Achkar, Jean-Paul JP
Publication Date: 2013-08

Variant appearance in text: rs10181042
PubMed Link: 23598818
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sex-specific differences in effect size estimates at established complex trait loci.

International Journal Of Epidemiology
Orozco, Gisela G; Ioannidis, John P A JP; Morris, Andrew A; Zeggini, Eleftheria E; ,
Publication Date: 2012-10

Variant appearance in text: rs10181042
PubMed Link: 22825589
Variant Present in the following documents:
View BVdb publication page



IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells.

Journal Of Immunology (Baltimore, Md. : 1950)
Hedl, Matija M; Abraham, Clara C
Publication Date: 2012-06-01

Variant appearance in text: rs10181042
PubMed Link: 22544929
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci.

Journal Of Hepatology
Folseraas, Trine T; Melum, Espen E; Rausch, Philipp P; Juran, Brian D BD; Ellinghaus, Eva E; Shiryaev, Alexey A; Laerdahl, Jon K JK; Ellinghaus, David D; Schramm, Christoph C; Weismüller, Tobias J TJ; Gotthardt, Daniel Nils DN; Hov, Johannes Roksund JR; Clausen, Ole Petter OP; Weersma, Rinse K RK; Janse, Marcel M; Boberg, Kirsten Muri KM; Björnsson, Einar E; Marschall, Hanns-Ulrich HU; Cleynen, Isabelle I; Rosenstiel, Philip P; Holm, Kristian K; Teufel, Andreas A; Rust, Christian C; Gieger, Christian C; Wichmann, H-Erich HE; Bergquist, Annika A; Ryu, Euijung E; Ponsioen, Cyriel Y CY; Runz, Heiko H; Sterneck, Martina M; Vermeire, Severine S; Beuers, Ulrich U; Wijmenga, Cisca C; Schrumpf, Erik E; Manns, Michael P MP; Lazaridis, Konstantinos N KN; Schreiber, Stefan S; Baines, John F JF; Franke, Andre A; Karlsen, Tom H TH
Publication Date: 2012-08

Variant appearance in text: rs10181042
PubMed Link: 22521342
Variant Present in the following documents:
  • Main text
View BVdb publication page



Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.

American Journal Of Human Genetics
Ellinghaus, David D; Ellinghaus, Eva E; Nair, Rajan P RP; Stuart, Philip E PE; Esko, Tõnu T; Metspalu, Andres A; Debrus, Sophie S; Raelson, John V JV; Tejasvi, Trilokraj T; Belouchi, Majid M; West, Sarah L SL; Barker, Jonathan N JN; Kõks, Sulev S; Kingo, Külli K; Balschun, Tobias T; Palmieri, Orazio O; Annese, Vito V; Gieger, Christian C; Wichmann, H Erich HE; Kabesch, Michael M; Trembath, Richard C RC; Mathew, Christopher G CG; Abecasis, Gonçalo R GR; Weidinger, Stephan S; Nikolaus, Susanna S; Schreiber, Stefan S; Elder, James T JT; Weichenthal, Michael M; Nothnagel, Michael M; Franke, Andre A
Publication Date: 2012-04-06

Variant appearance in text: rs10181042
PubMed Link: 22482804
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

Nature Genetics
Franke, Andre A; McGovern, Dermot P B DP; Barrett, Jeffrey C JC; Wang, Kai K; Radford-Smith, Graham L GL; Ahmad, Tariq T; Lees, Charlie W CW; Balschun, Tobias T; Lee, James J; Roberts, Rebecca R; Anderson, Carl A CA; Bis, Joshua C JC; Bumpstead, Suzanne S; Ellinghaus, David D; Festen, Eleonora M EM; Georges, Michel M; Green, Todd T; Haritunians, Talin T; Jostins, Luke L; Latiano, Anna A; Mathew, Christopher G CG; Montgomery, Grant W GW; Prescott, Natalie J NJ; Raychaudhuri, Soumya S; Rotter, Jerome I JI; Schumm, Philip P; Sharma, Yashoda Y; Simms, Lisa A LA; Taylor, Kent D KD; Whiteman, David D; Wijmenga, Cisca C; Baldassano, Robert N RN; Barclay, Murray M; Bayless, Theodore M TM; Brand, Stephan S; Büning, Carsten C; Cohen, Albert A; Colombel, Jean-Frederick JF; Cottone, Mario M; Stronati, Laura L; Denson, Ted T; De Vos, Martine M; D'Inca, Renata R; Dubinsky, Marla M; Edwards, Cathryn C; Florin, Tim T; Franchimont, Denis D; Gearry, Richard R; Glas, Jürgen J; Van Gossum, Andre A; Guthery, Stephen L SL; Halfvarson, Jonas J; Verspaget, Hein W HW; Hugot, Jean-Pierre JP; Karban, Amir A; Laukens, Debby D; Lawrance, Ian I; Lemann, Marc M; Levine, Arie A; Libioulle, Cecile C; Louis, Edouard E; Mowat, Craig C; Newman, William W; Panés, Julián J; Phillips, Anne A; Proctor, Deborah D DD; Regueiro, Miguel M; Russell, Richard R; Rutgeerts, Paul P; Sanderson, Jeremy J; Sans, Miquel M; Seibold, Frank F; Steinhart, A Hillary AH; Stokkers, Pieter C F PC; Torkvist, Leif L; Kullak-Ublick, Gerd G; Wilson, David D; Walters, Thomas T; Targan, Stephan R SR; Brant, Steven R SR; Rioux, John D JD; D'Amato, Mauro M; Weersma, Rinse K RK; Kugathasan, Subra S; Griffiths, Anne M AM; Mansfield, John C JC; Vermeire, Severine S; Duerr, Richard H RH; Silverberg, Mark S MS; Satsangi, Jack J; Schreiber, Stefan S; Cho, Judy H JH; Annese, Vito V; Hakonarson, Hakon H; Daly, Mark J MJ; Parkes, Miles M
Publication Date: 2010-12

Variant appearance in text: rs10181042
PubMed Link: 21102463
Variant Present in the following documents:
  • Main text
View BVdb publication page