rs2298771
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2298771(A;A) |
Make rs2298771(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 166036278 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs2298771 |
dbSNP (classic) | rs2298771 |
ClinGen | rs2298771 |
ebi | rs2298771 |
HLI | rs2298771 |
Exac | rs2298771 |
Gnomad | rs2298771 |
Varsome | rs2298771 |
LitVar | rs2298771 |
Map | rs2298771 |
PheGenI | rs2298771 |
Biobank | rs2298771 |
1000 genomes | rs2298771 |
hgdp | rs2298771 |
ensembl | rs2298771 |
geneview | rs2298771 |
scholar | rs2298771 |
rs2298771 | |
pharmgkb | rs2298771 |
gwascentral | rs2298771 |
openSNP | rs2298771 |
23andMe | rs2298771 |
SNPshot | rs2298771 |
SNPdbe | rs2298771 |
MSV3d | rs2298771 |
GWAS Ctlg | rs2298771 |
GMAF | 0.2144 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 19694741] Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population
[PMID 17676998] Imputation-based analysis of association studies: candidate regions and quantitative traits.
[PMID 21881118] Genetic variants and susceptibility to neurological complications following West Nile virus infection.
ClinVar | |
---|---|
Risk | rs2298771(A;A) |
Alt | rs2298771(A;A) |
Reference | Rs2298771(G;G) |
Significance | Other |
Disease | Generalized epilepsy with febrile seizures plus not specified Familial hemiplegic migraine Seizure Disorders |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | Generalized epilepsy with febrile seizures plus not specified Familial hemiplegic migraine Seizure Disorders |
Reversed | 1 |
HGVS | NC_000002.11:g.166892788C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000030432.1, RCV000079572.10, RCV000338109.1, RCV000401331.1, |
[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
[PMID 30693367] SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients.