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rs3812718

From SNPedia

Orientationplus
Stabilizedplus
Make rs3812718(C;C)
Make rs3812718(C;T)
Make rs3812718(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position166053034
GeneSCN1A
is asnp
is mentioned by
dbSNPrs3812718
ebirs3812718
HLIrs3812718
Exacrs3812718
Varsomers3812718
Maprs3812718
PheGenIrs3812718
hapmaprs3812718
1000 genomesrs3812718
hgdprs3812718
ensemblrs3812718
gopubmedrs3812718
geneviewrs3812718
scholarrs3812718
googlers3812718
pharmgkbrs3812718
gwascentralrs3812718
openSNPrs3812718
23andMers3812718
23andMe allrs3812718
SNP Nexus

SNPshotrs3812718
SNPdbers3812718
MSV3drs3812718
GWAS Ctlgrs3812718
GMAF0.483
Max Magnitude
? (C;C) (C;T) (T;T) 28
Genetic predictors of the maximum doses patients receive during anti-epileptic drugs carbamazepine and phenytoin

Possible commercial test

OMIM182389
DescSODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A
Variant
Relatedalso



[PMID 20477842] Failure to detect association between polymorphisms of the sodium channel gene SCN1A and febrile seizures in Chinese patients with epilepsy

OMIM182389
Desc
Variant0016
Relatedalso
OMIM604403
Desc
Variant
Relatedalso
[PMID 15805193OA-icon.png] Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.


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


[PMID 19289736] A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.


[PMID 21453355OA-icon.png] SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs.


[PMID 21762453] Replication of association between a SCN1A splice variant and febrile seizures.


[PMID 22292851] Comprehensive analysis of the association of SCN1A gene polymorphisms with the retention rate of carbamazepine following monotherapy for new-onset focal seizures in the Chinese Han population.


[PMID 22569204OA-icon.png] PharmGKB summary: phenytoin pathway.


GET Evidence
rs3812718
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.429688
summary



[PMID 23786015] [Pharmacogenetic criteria drug-resistence epilepsy]


[PMID 24076350] SCN1A rs3812718 Polymorphism and Susceptibility to Epilepsy with Febrile Seizures: A Meta-analysis


[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 23466530] SCN1AIVS5-91G>A polymorphism is associated with susceptibility to epilepsy but not with drug responsiveness.


[PMID 23752739] Gender-specific profiling in SCN1A polymorphisms and time-to-recurrence in patients with stage II/III colorectal cancer treated with adjuvant 5-fluoruracil chemotherapy.


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


ClinVar
Risk rs3812718(T;T)
Alt rs3812718(T;T)
Reference rs3812718(C;C)
Significance Other
Disease Febrile seizures carbamazepine response - Dosage phenytoin response - Dosage
Variation info
Gene SCN1A
CLNDBN Febrile seizures, familial, 3a carbamazepine response - Dosage phenytoin response - Dosage
Reversed 0
HGVS NC_000002.11:g.166909544C>T
CLNSRC OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000013759.3, RCV000211149.1, RCV000211277.1,



[PMID 26189305] ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population