PUS10 c.468+16150A>G

Variant ID: 2-61217542-T-C

NM_144709.2(PUS10):c.468+16150A>G

This variant was identified in 7 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: rs10188217
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



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: rs10188217
PubMed Link: 33608531
Variant Present in the following documents:
  • 41467_2021_21280_MOESM1_ESM.pdf
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: rs10188217
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.

Genetic Epidemiology
Rubicz, Rohina R; Yolken, Robert R; Alaedini, Armin A; Drigalenko, Eugene E; Charlesworth, Jac C JC; Carless, Melanie A MA; Severance, Emily G EG; Krivogorsky, Bogdana B; Dyer, Thomas D TD; Kent, Jack W JW; Curran, Joanne E JE; Johnson, Matthew P MP; Cole, Shelley A SA; Almasy, Laura L; Moses, Eric K EK; Blangero, John J; Göring, Harald H H HH
Publication Date: 2014-07

Variant appearance in text: rs10188217
PubMed Link: 24962563
Variant Present in the following documents:
  • Main text
View BVdb publication page



A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease.

Plos Genetics
Festen, Eleonora A M EA; Goyette, Philippe P; Green, Todd T; Boucher, Gabrielle G; Beauchamp, Claudine C; Trynka, Gosia G; Dubois, Patrick C PC; Lagacé, Caroline C; Stokkers, Pieter C F PC; Hommes, Daan W DW; Barisani, Donatella D; Palmieri, Orazio O; Annese, Vito V; van Heel, David A DA; Weersma, Rinse K RK; Daly, Mark J MJ; Wijmenga, Cisca C; Rioux, John D JD
Publication Date: 2011-01-27

Variant appearance in text: rs10188217
PubMed Link: 21298027
Variant Present in the following documents:
  • Main text
  • pgen.1001283.pdf
View BVdb publication page



Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.

Plos Genetics
Raychaudhuri, Soumya S; Plenge, Robert M RM; Rossin, Elizabeth J EJ; Ng, Aylwin C Y AC; , ; Purcell, Shaun M SM; Sklar, Pamela P; Scolnick, Edward M EM; Xavier, Ramnik J RJ; Altshuler, David D; Daly, Mark J MJ
Publication Date: 2009-06

Variant appearance in text: rs10188217
PubMed Link: 19557189
Variant Present in the following documents:
View BVdb publication page



Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.

Gastroenterology
Anderson, Carl A CA; Massey, Dunecan C O DC; Barrett, Jeffrey C JC; Prescott, Natalie J NJ; Tremelling, Mark M; Fisher, Sheila A SA; Gwilliam, Rhian R; Jacob, Jemima J; Nimmo, Elaine R ER; Drummond, Hazel H; Lees, Charlie W CW; Onnie, Clive M CM; Hanson, Catherine C; Blaszczyk, Katarzyna K; Ravindrarajah, Radhi R; Hunt, Sarah S; Varma, Dhiraj D; Hammond, Naomi N; Lewis, Gregory G; Attlesey, Heather H; Watkins, Nick N; Ouwehand, Willem W; Strachan, David D; McArdle, Wendy W; Lewis, Cathryn M CM; , ; Lobo, Alan A; Sanderson, Jeremy J; Jewell, Derek P DP; Deloukas, Panos P; Mansfield, John C JC; Mathew, Christopher G CG; Satsangi, Jack J; Parkes, Miles M
Publication Date: 2009-02

Variant appearance in text: rs10188217
PubMed Link: 19068216
Variant Present in the following documents:
  • Main text
View BVdb publication page