CELSR2 c.5464+33A>C

Variant ID: 1-109807283-A-C

NM_001408.2(CELSR2):c.5464+33A>C

This variant was identified in 5 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: rs6657811
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The association between vitamin D and uterine fibroids: A mendelian randomization study.

Frontiers In Genetics
Guo, Weijie W; Dai, Mengyuan M; Zhong, Zhuoling Z; Zhu, San S; Gong, Guidong G; Chen, Mei M; Guo, Junling J; Zhang, Yaoyao Y
Publication Date: 2022

Variant appearance in text: rs6657811
PubMed Link: 36212159
Variant Present in the following documents:
  • Main text
  • fgene-13-1013192.pdf
View BVdb publication page



Polygenic Hyperlipidemias and Coronary Artery Disease Risk.

Circulation. Genomic And Precision Medicine
Ripatti, Pietari P; Rämö, Joel T JT; Mars, Nina J NJ; Fu, Yu Y; Lin, Jake J; Söderlund, Sanni S; Benner, Christian C; Surakka, Ida I; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Palta, Priit P; Freimer, Nelson B NB; Widén, Elisabeth E; Salomaa, Veikko V; Tukiainen, Taru T; Pirinen, Matti M; Palotie, Aarno A; Taskinen, Marja-Riitta MR; Ripatti, Samuli S; ,
Publication Date: 2020-04

Variant appearance in text: rs6657811
PubMed Link: 32154731
Variant Present in the following documents:
  • hcg-13-e002725-s001.pdf
View BVdb publication page



Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.

Bmc Medical Genetics
Huhn, Stefanie S; Bevier, Melanie M; Rudolph, Anja A; Pardini, Barbara B; Naccarati, Alessio A; Hein, Rebecca R; Hoffmeister, Michael M; Vodickova, Ludmila L; Novotny, Jan J; Brenner, Hermann H; Chang-Claude, Jenny J; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A
Publication Date: 2012-10-05

Variant appearance in text: rs6657811
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
View BVdb publication page



LDL-cholesterol concentrations: a genome-wide association study.

Lancet (London, England)
Sandhu, Manjinder S MS; Waterworth, Dawn M DM; Debenham, Sally L SL; Wheeler, Eleanor E; Papadakis, Konstantinos K; Zhao, Jing Hua JH; Song, Kijoung K; Yuan, Xin X; Johnson, Toby T; Ashford, Sofie S; Inouye, Michael M; Luben, Robert R; Sims, Matthew M; Hadley, David D; McArdle, Wendy W; Barter, Philip P; Kesäniemi, Y Antero YA; Mahley, Robert W RW; McPherson, Ruth R; Grundy, Scott M SM; , ; Bingham, Sheila A SA; Khaw, Kay-Tee KT; Loos, Ruth J F RJ; Waeber, Gérard G; Barroso, Inês I; Strachan, David P DP; Deloukas, Panagiotis P; Vollenweider, Peter P; Wareham, Nicholas J NJ; Mooser, Vincent V
Publication Date: 2008-02-09

Variant appearance in text: rs6657811
PubMed Link: 18262040
Variant Present in the following documents:
  • Main text
View BVdb publication page