PLCL1 c.241-41339C>T

Variant ID: 2-198907143-C-T

NM_006226.3(PLCL1):c.241-41339C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease.

Nature Communications
Watt, Stephen S; Vasquez, Louella L; Walter, Klaudia K; Mann, Alice L AL; Kundu, Kousik K; Chen, Lu L; Sims, Ying Y; Ecker, Simone S; Burden, Frances F; Farrow, Samantha S; Farr, Ben B; Iotchkova, Valentina V; Elding, Heather H; Mead, Daniel D; Tardaguila, Manuel M; Ponstingl, Hannes H; Richardson, David D; Datta, Avik A; Flicek, Paul P; Clarke, Laura L; Downes, Kate K; Pastinen, Tomi T; Fraser, Peter P; Frontini, Mattia M; Javierre, Biola-Maria BM; Spivakov, Mikhail M; Soranzo, Nicole N
Publication Date: 2021-04-16

Variant appearance in text: rs9712275
PubMed Link: 33863903
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_22548.pdf
  • 41467_2021_22548_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: rs9712275
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Genome-wide association analysis of self-reported daytime sleepiness identifies 42 loci that suggest biological subtypes.

Nature Communications
Wang, Heming H; Lane, Jacqueline M JM; Jones, Samuel E SE; Dashti, Hassan S HS; Ollila, Hanna M HM; Wood, Andrew R AR; van Hees, Vincent T VT; Brumpton, Ben B; Winsvold, Bendik S BS; Kantojärvi, Katri K; Palviainen, Teemu T; Cade, Brian E BE; Sofer, Tamar T; Song, Yanwei Y; Patel, Krunal K; Anderson, Simon G SG; Bechtold, David A DA; Bowden, Jack J; Emsley, Richard R; Kyle, Simon D SD; Little, Max A MA; Loudon, Andrew S AS; Scheer, Frank A J L FAJL; Purcell, Shaun M SM; Richmond, Rebecca C RC; Spiegelhalder, Kai K; Tyrrell, Jessica J; Zhu, Xiaofeng X; Hublin, Christer C; Kaprio, Jaakko A JA; Kristiansson, Kati K; Sulkava, Sonja S; Paunio, Tiina T; Hveem, Kristian K; Nielsen, Jonas B JB; Willer, Cristen J CJ; Zwart, John-Anker JA; Strand, Linn B LB; Frayling, Timothy M TM; Ray, David D; Lawlor, Deborah A DA; Rutter, Martin K MK; Weedon, Michael N MN; Redline, Susan S; Saxena, Richa R
Publication Date: 2019-08-13

Variant appearance in text: rs9712275
PubMed Link: 31409809
Variant Present in the following documents:
  • 41467_2019_Article_11456.pdf
  • 41467_2019_11456_MOESM10_ESM.pdf
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs9712275
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-5.pdf
View BVdb publication page



A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.

Human Genetics
Kapoor, Manav M; Wang, Jen-Chyong JC; Wetherill, Leah L; Le, Nhung N; Bertelsen, Sarah S; Hinrichs, Anthony L AL; Budde, John J; Agrawal, Arpana A; Bucholz, Kathleen K; Dick, Danielle D; Harari, Oscar O; Hesselbrock, Victor V; Kramer, John J; Nurnberger, John I JI; Rice, John J; Saccone, Nancy N; Schuckit, Marc M; Tischfield, Jay J; Porjesz, Bernice B; Edenberg, Howard J HJ; Bierut, Laura L; Foroud, Tatiana T; Goate, Alison A
Publication Date: 2013-10

Variant appearance in text: rs9712275
PubMed Link: 23743675
Variant Present in the following documents:
  • Main text
View BVdb publication page