LRRK2 c.5757+2698G>A

Variant ID: 12-40724960-G-A

NM_198578.3(LRRK2):c.5757+2698G>A

This variant was identified in 6 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: rs7307562
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Methods for statistical fine-mapping and their applications to auto-immune diseases.

Seminars In Immunopathology
Wang, Qingbo S QS; Huang, Hailiang H
Publication Date: 2022-01

Variant appearance in text: rs7307562
PubMed Link: 35041074
Variant Present in the following documents:
  • Main text
  • 281_2021_Article_902.pdf
View BVdb publication page



Susceptible loci associated with autoimmune disease as potential biomarkers for checkpoint inhibitor-induced immune-related adverse events.

Esmo Open
Hoefsmit, Esmée P EP; Rozeman, Elisa A EA; Haanen, John B A G JBAG; Blank, Christian U CU
Publication Date: 2019

Variant appearance in text: rs7307562
PubMed Link: 31423333
Variant Present in the following documents:
  • esmoopen-2018-000472supp001.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: rs7307562
PubMed Link: 28658209
Variant Present in the following documents:
  • Main text
  • NIHMS72714-supplement-Supplementary_Information.pdf
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 3
  • emss-72714.pdf
View BVdb publication page



Do interactions between SNCA, MAPT, and LRRK2 genes contribute to Parkinson's disease susceptibility?

Parkinsonism & Related Disorders
Biernacka, Joanna M JM; Armasu, Sebastian M SM; Cunningham, Julie M JM; Ahlskog, J Eric JE; Chung, Sun Ju SJ; Maraganore, Demetrius M DM
Publication Date: 2011-12

Variant appearance in text: rs7307562
PubMed Link: 21816655
Variant Present in the following documents:
  • Main text
View BVdb publication page



Parkinson's disease and low frequency alleles found together throughout LRRK2.

Annals Of Human Genetics
Paisán-Ruiz, Coro C; Washecka, Nicole N; Nath, Priti P; Singleton, Andrew B AB; Corder, Elizabeth H EH
Publication Date: 2009-07

Variant appearance in text: rs7307562
PubMed Link: 19489756
Variant Present in the following documents:
  • Main text
View BVdb publication page