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rs2298771

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2298771(A;A)
Make rs2298771(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position166036278
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs2298771
ebirs2298771
HLIrs2298771
Exacrs2298771
Varsomers2298771
Maprs2298771
PheGenIrs2298771
hapmaprs2298771
1000 genomesrs2298771
hgdprs2298771
ensemblrs2298771
gopubmedrs2298771
geneviewrs2298771
scholarrs2298771
googlers2298771
pharmgkbrs2298771
gwascentralrs2298771
openSNPrs2298771
23andMers2298771
23andMe allrs2298771
SNP Nexus

SNPshotrs2298771
SNPdbers2298771
MSV3drs2298771
GWAS Ctlgrs2298771
GMAF0.2144
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 19694741OA-icon.png] Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population

[PMID 17676998OA-icon.png] Imputation-based analysis of association studies: candidate regions and quantitative traits.

[PMID 21881118OA-icon.png] Genetic variants and susceptibility to neurological complications following West Nile virus infection.


GET Evidence
SCN1A-A1056T
aa_change Ala1056Thr
aa_change_short A1056T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.723782
summary



ClinVar
Risk rs2298771(A;A)
Alt rs2298771(A;A)
Reference rs2298771(G;G)
Significance Other
Disease Generalized epilepsy with febrile seizures plus not specified
Variation info
Gene LOC102724058 SCN1A
CLNDBN Generalized epilepsy with febrile seizures plus not specified
Reversed 1
HGVS NC_000002.11:g.166892788C>T
CLNSRC ClinVar Emory University GeneDx University of Chicago LabCorp
CLNACC RCV000030432.1, RCV000079572.8,



[PMID 22591328] Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up.


[PMID 24337656] Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy