rs146878122
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs146878122(C;C) |
Make rs146878122(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 166009822 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs146878122 |
dbSNP (classic) | rs146878122 |
ClinGen | rs146878122 |
ebi | rs146878122 |
HLI | rs146878122 |
Exac | rs146878122 |
Gnomad | rs146878122 |
Varsome | rs146878122 |
LitVar | rs146878122 |
Map | rs146878122 |
PheGenI | rs146878122 |
Biobank | rs146878122 |
1000 genomes | rs146878122 |
hgdp | rs146878122 |
ensembl | rs146878122 |
geneview | rs146878122 |
scholar | rs146878122 |
rs146878122 | |
pharmgkb | rs146878122 |
gwascentral | rs146878122 |
openSNP | rs146878122 |
23andMe | rs146878122 |
SNPshot | rs146878122 |
SNPdbe | rs146878122 |
MSV3d | rs146878122 |
GWAS Ctlg | rs146878122 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146878122(A;A) rs146878122(C;C) |
Alt | rs146878122(A;A) rs146878122(C;C) |
Reference | Rs146878122(G;G) |
Significance | Pathogenic |
Disease | not specified Early infantile epileptic encephalopathy Severe myoclonic epilepsy in infancy |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | not specified Early infantile epileptic encephalopathy Severe myoclonic epilepsy in infancy |
Reversed | 0 |
HGVS | NC_000002.11:g.166866332G>A; NC_000002.11:g.166866332G>C |
CLNSRC | Peking University |
CLNACC | RCV000188933.3, RCV000471568.1, RCV000180922.1, |