rs878854263
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs878854263(G;T) |
Make rs878854263(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 166002474 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs878854263 |
dbSNP (classic) | rs878854263 |
ClinGen | rs878854263 |
ebi | rs878854263 |
HLI | rs878854263 |
Exac | rs878854263 |
Gnomad | rs878854263 |
Varsome | rs878854263 |
LitVar | rs878854263 |
Map | rs878854263 |
PheGenI | rs878854263 |
Biobank | rs878854263 |
1000 genomes | rs878854263 |
hgdp | rs878854263 |
ensembl | rs878854263 |
geneview | rs878854263 |
scholar | rs878854263 |
rs878854263 | |
pharmgkb | rs878854263 |
gwascentral | rs878854263 |
openSNP | rs878854263 |
23andMe | rs878854263 |
SNPshot | rs878854263 |
SNPdbe | rs878854263 |
MSV3d | rs878854263 |
GWAS Ctlg | rs878854263 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854263(T;T) |
Alt | rs878854263(T;T) |
Reference | Rs878854263(G;G) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | Early infantile epileptic encephalopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.166858984C>A |
CLNSRC | |
CLNACC | RCV000231750.1, |