rs794726809
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794726809(C;T) |
Make rs794726809(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 165998102 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs794726809 |
dbSNP (classic) | rs794726809 |
ClinGen | rs794726809 |
ebi | rs794726809 |
HLI | rs794726809 |
Exac | rs794726809 |
Gnomad | rs794726809 |
Varsome | rs794726809 |
LitVar | rs794726809 |
Map | rs794726809 |
PheGenI | rs794726809 |
Biobank | rs794726809 |
1000 genomes | rs794726809 |
hgdp | rs794726809 |
ensembl | rs794726809 |
geneview | rs794726809 |
scholar | rs794726809 |
rs794726809 | |
pharmgkb | rs794726809 |
gwascentral | rs794726809 |
openSNP | rs794726809 |
23andMe | rs794726809 |
SNPshot | rs794726809 |
SNPdbe | rs794726809 |
MSV3d | rs794726809 |
GWAS Ctlg | rs794726809 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726809(A;A) rs794726809(T;T) |
Alt | rs794726809(A;A) rs794726809(T;T) |
Reference | Rs794726809(C;C) |
Significance | Pathogenic |
Disease | Severe myoclonic epilepsy in infancy not provided |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | Severe myoclonic epilepsy in infancy not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.166854612G>A; NC_000002.11:g.166854612G>T |
CLNSRC | Peking University |
CLNACC | RCV000180931.1, RCV000479185.1, |