rs3812718
| Orientation | plus |
| Stabilized | plus |
| Make rs3812718(C;C) |
| Make rs3812718(C;T) |
| Make rs3812718(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 166053034 |
| Gene | SCN1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3812718 |
| dbSNP (classic) | rs3812718 |
| ClinGen | rs3812718 |
| ebi | rs3812718 |
| HLI | rs3812718 |
| Exac | rs3812718 |
| Gnomad | rs3812718 |
| Varsome | rs3812718 |
| LitVar | rs3812718 |
| Map | rs3812718 |
| PheGenI | rs3812718 |
| Biobank | rs3812718 |
| 1000 genomes | rs3812718 |
| hgdp | rs3812718 |
| ensembl | rs3812718 |
| geneview | rs3812718 |
| scholar | rs3812718 |
| rs3812718 | |
| pharmgkb | rs3812718 |
| gwascentral | rs3812718 |
| openSNP | rs3812718 |
| 23andMe | rs3812718 |
| SNPshot | rs3812718 |
| SNPdbe | rs3812718 |
| MSV3d | rs3812718 |
| GWAS Ctlg | rs3812718 |
| GMAF | 0.483 |
| Max Magnitude | 0 |
| ? | (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
[PMID 20477842] Failure to detect association between polymorphisms of the sodium channel gene SCN1A and febrile seizures in Chinese patients with epilepsy
[PMID 15805193
] Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.
[PMID 17676998] 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 21453355] 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 22569204] PharmGKB summary: phenytoin pathway.
[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 carbamazepine response - Efficacy antiepileptics response - Efficacy |
| Variation | info |
| Gene | SCN1A |
| CLNDBN | Febrile seizures, familial, 3a carbamazepine response - Dosage phenytoin response - Dosage carbamazepine response - Efficacy antiepileptics response - Efficacy |
| Reversed | 0 |
| HGVS | NC_000002.11:g.166909544C>T |
| CLNSRC | OMIM Allelic Variant PharmGKB Clinical Annotation |
| CLNACC | RCV000013759.3, RCV000211149.1, RCV000211277.1, RCV000417147.1, RCV000417184.1, |
[PMID 26189305] ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population
[PMID 30693367] SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients.
