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SCN1A c.265-6803A>G
Variant ID: 2-166922001-T-C
NM_001165963.1(
SCN1A
):c.265-6803A>G
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: rs11686142
PubMed Link:
30214008
Variant Present in the following documents:
NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page
Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece.
Archives Of Medical Science : Ams
Angelopoulou, Christina C; Veletza, Stavroula S; Heliopoulos, Ioannis I; Vadikolias, Konstantinos K; Tripsianis, Grigorios G; Stathi, Chrysa C; Piperidou, Charitomeni C
Publication Date: 2017-02-01
Variant appearance in text: rs11686142
PubMed Link:
28144265
Variant Present in the following documents:
Main text
AMS-13-27502.pdf
View BVdb publication page
Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels.
Cns Neuroscience & Therapeutics
Baghel, Ruchi R; Grover, Sandeep S; Kaur, Harpreet H; Jajodia, Ajay A; Rawat, Chitra C; Srivastava, Ankit A; Kushwaha, Suman S; Agarwal, Rachna R; Sharma, Sangeeta S; Kukreti, Ritushree R
Publication Date: 2016-09
Variant appearance in text: rs11686142
PubMed Link:
27245092
Variant Present in the following documents:
Main text
View BVdb publication page