SCN1A c.2416-72G>A

Variant ID: 2-166896178-C-T

NM_001165963.1(SCN1A):c.2416-72G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs490317
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs490317
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Imputation-based analysis of association studies: candidate regions and quantitative traits.

Plos Genetics
Servin, Bertrand B; Stephens, Matthew M
Publication Date: 2007-07

Variant appearance in text: rs490317
PubMed Link: 17676998
Variant Present in the following documents:
  • Main text
  • pgen.0030114.pdf
View BVdb publication page