rs17183814
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs17183814(A;A) |
| Make rs17183814(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 165295879 |
| Gene | SCN2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17183814 |
| dbSNP (classic) | rs17183814 |
| ClinGen | rs17183814 |
| ebi | rs17183814 |
| HLI | rs17183814 |
| Exac | rs17183814 |
| Gnomad | rs17183814 |
| Varsome | rs17183814 |
| LitVar | rs17183814 |
| Map | rs17183814 |
| PheGenI | rs17183814 |
| Biobank | rs17183814 |
| 1000 genomes | rs17183814 |
| hgdp | rs17183814 |
| ensembl | rs17183814 |
| geneview | rs17183814 |
| scholar | rs17183814 |
| rs17183814 | |
| pharmgkb | rs17183814 |
| gwascentral | rs17183814 |
| openSNP | rs17183814 |
| 23andMe | rs17183814 |
| SNPshot | rs17183814 |
| SNPdbe | rs17183814 |
| MSV3d | rs17183814 |
| GWAS Ctlg | rs17183814 |
| GMAF | 0.073 |
| 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
| ClinVar | |
|---|---|
| Risk | rs17183814(A;A) |
| Alt | rs17183814(A;A) |
| Reference | Rs17183814(G;G) |
| Significance | Other |
| Disease | not specified Early Infantile Epileptic Encephalopathy Benign familial neonatal-infantile seizures |
| Variation | info |
| Gene | SCN2A |
| CLNDBN | not specified Early Infantile Epileptic Encephalopathy, Autosomal Dominant Benign familial neonatal-infantile seizures |
| Reversed | 0 |
| HGVS | NC_000002.11:g.166152389G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000118260.3, RCV000278453.1, RCV000379925.1, |
[PMID 30693367] SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients.
