PHACTR1 c.250+150955C>T

Variant ID: 6-12900977-C-T

NM_030948.2(PHACTR1):c.250+150955C>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Prioritization of causal genes for coronary artery disease based on cumulative evidence from experimental and in silico studies.

Scientific Reports
Shadrina, Alexandra S AS; Shashkova, Tatiana I TI; Torgasheva, Anna A AA; Sharapov, Sodbo Z SZ; Klarić, Lucija L; Pakhomov, Eugene D ED; Alexeev, Dmitry G DG; Wilson, James F JF; Tsepilov, Yakov A YA; Joshi, Peter K PK; Aulchenko, Yurii S YS
Publication Date: 2020-06-26

Variant appearance in text: rs7751826
PubMed Link: 32591598
Variant Present in the following documents:
  • Main text
  • 41598_2020_67001_MOESM6_ESM.pdf
View BVdb publication page



Common genetic variants do not associate with CAD in familial hypercholesterolemia.

European Journal Of Human Genetics : Ejhg
van Iperen, Erik P A EP; Sivapalaratnam, Suthesh S; Boekholdt, S Matthijs SM; Hovingh, G Kees GK; Maiwald, Stephanie S; Tanck, Michael W MW; Soranzo, Nicole N; Stephens, Jonathan C JC; Sambrook, Jennifer G JG; Levi, Marcel M; Ouwehand, Willem H WH; Kastelein, John Jp JJ; Trip, Mieke D MD; Zwinderman, Aeilko H AH
Publication Date: 2014-06

Variant appearance in text: rs7751826
PubMed Link: 24219970
Variant Present in the following documents:
  • Main text
View BVdb publication page