SCN5A c.998+598G>A

Variant ID: 3-38649044-C-T

NM_000335.4(SCN5A):c.998+598G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A comparison of two workflows for regulome and transcriptome-based prioritization of genetic variants associated with myocardial mass.

Genetic Epidemiology
Manduchi, Elisabetta E; Hemerich, Daiane D; van Setten, Jessica J; Tragante, Vinicius V; Harakalova, Magdalena M; Pei, Jiayi J; Williams, Scott M SM; van der Harst, Pim P; Asselbergs, Folkert W FW; Moore, Jason H JH
Publication Date: 2019-09

Variant appearance in text: rs12491987
PubMed Link: 31145509
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs12491987
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Modeling susceptibility to drug-induced long QT with a panel of subject-specific induced pluripotent stem cells.

Elife
Stillitano, Francesca F; Hansen, Jens J; Kong, Chi-Wing CW; Karakikes, Ioannis I; Funck-Brentano, Christian C; Geng, Lin L; Scott, Stuart S; Reynier, Stephan S; Wu, Ma M; Valogne, Yannick Y; Desseaux, Carole C; Salem, Joe-Elie JE; Jeziorowska, Dorota D; Zahr, Noël N; Li, Ronald R; Iyengar, Ravi R; Hajjar, Roger J RJ; Hulot, Jean-Sébastien JS
Publication Date: 2017-01-30

Variant appearance in text: rs12491987
PubMed Link: 28134617
Variant Present in the following documents:
  • Main text
  • elife-19406.pdf
View BVdb publication page