VWF c.6859C>G ;(p.R2287G)

Variant ID: 12-6094771-G-C

NM_000552.3(VWF):c.6859C>G;(p.R2287G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The impact of rare and low-frequency genetic variants in common disease.

Genome Biology
Bomba, Lorenzo L; Walter, Klaudia K; Soranzo, Nicole N
Publication Date: 2017-04-27

Variant appearance in text: rs61750625
PubMed Link: 28449691
Variant Present in the following documents:
  • Main text
  • 13059_2017_Article_1212.pdf
View BVdb publication page



Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.

American Journal Of Hematology
Tang, Weihong W; Cushman, Mary M; Green, David D; Rich, Stephen S SS; Lange, Leslie A LA; Yang, Qiong Q; Tracy, Russell P RP; Tofler, Geoffrey H GH; Basu, Saonli S; Wilson, James G JG; Keating, Brendan J BJ; Weng, Lu-Chen LC; Taylor, Herman A HA; Jacobs, David R DR; Delaney, Joseph A JA; Palmer, Cameron D CD; Young, Taylor T; Pankow, James S JS; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Reiner, Alexander P AP; Folsom, Aaron R AR
Publication Date: 2015-06

Variant appearance in text: rs61750625
PubMed Link: 25779970
Variant Present in the following documents:
  • Main text
View BVdb publication page