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.