VWF c.2443-2348A>G

Variant ID: 12-6148005-T-C

NM_000552.3(VWF):c.2443-2348A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Von Willebrand Factor Gene Variants Associate with Herpes simplex Encephalitis.

Plos One
Abdelmagid, Nada N; Bereczky-Veress, Biborka B; Atanur, Santosh S; Musilová, Alena A; Zídek, Václav V; Saba, Laura L; Warnecke, Andreas A; Khademi, Mohsen M; Studahl, Marie M; Aurelius, Elisabeth E; Hjalmarsson, Anders A; Garcia-Diaz, Ana A; Denis, Cécile V CV; Bergström, Tomas T; Sköldenberg, Birgit B; Kockum, Ingrid I; Aitman, Timothy T; Hübner, Norbert N; Olsson, Tomas T; Pravenec, Michal M; Diez, Margarita M
Publication Date: 2016

Variant appearance in text: rs216335
PubMed Link: 27224245
Variant Present in the following documents:
  • Main text
  • pone.0155832.pdf
View BVdb publication page



Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.

Bmc Medical Genetics
Antoni, Guillemette G; Oudot-Mellakh, Tiphaine T; Dimitromanolakis, Apostolos A; Germain, Marine M; Cohen, William W; Wells, Philip P; Lathrop, Mark M; Gagnon, France F; Morange, Pierre-Emmanuel PE; Tregouet, David-Alexandre DA
Publication Date: 2011-08-02

Variant appearance in text: rs216335
PubMed Link: 21810271
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-102.pdf
View BVdb publication page



A common variant in the Von Willebrand factor gene is associated with multiple functional consequences.

American Journal Of Hematology
Vaidya, Dhananjay D; Yanek, Lisa R LR; Herrera-Galeano, J Enrique JE; Mathias, Rasika A RA; Moy, Taryn F TF; Faraday, Nauder N; Becker, Lewis C LC; Becker, Diane M DM
Publication Date: 2010-12

Variant appearance in text: rs216335
PubMed Link: 20941784
Variant Present in the following documents:
  • Main text
View BVdb publication page