SCN1A c.2589+208A>C

Variant ID: 2-166895725-T-G

NM_001165963.1(SCN1A):c.2589+208A>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Breast Cancer Risk Prediction Among Asian Women.

Jama Network Open
Yang, Yaohua Y; Tao, Ran R; Shu, Xiang X; Cai, Qiuyin Q; Wen, Wanqing W; Gu, Kai K; Gao, Yu-Tang YT; Zheng, Ying Y; Kweon, Sun-Seog SS; Shin, Min-Ho MH; Choi, Ji-Yeob JY; Lee, Eun-Sook ES; Kong, Sun-Young SY; Park, Boyoung B; Park, Min Ho MH; Jia, Guochong G; Li, Bingshan B; Kang, Daehee D; Shu, Xiao-Ou XO; Long, Jirong J; Zheng, Wei W
Publication Date: 2022-03-01

Variant appearance in text: rs1019724
PubMed Link: 35311964
Variant Present in the following documents:
  • jamanetwopen-e2149030-s001.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs1019724
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
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: rs1019724
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping.

American Journal Of Human Genetics
Weale, Mike E ME; Depondt, Chantal C; Macdonald, Stuart J SJ; Smith, Alice A; Lai, Poh San PS; Shorvon, Simon D SD; Wood, Nicholas W NW; Goldstein, David B DB
Publication Date: 2003-09

Variant appearance in text: rs1019724
PubMed Link: 12900796
Variant Present in the following documents:
  • Main text
View BVdb publication page