rs542420576
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs542420576(G;T) |
Make rs542420576(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 166036371 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs542420576 |
dbSNP (classic) | rs542420576 |
ClinGen | rs542420576 |
ebi | rs542420576 |
HLI | rs542420576 |
Exac | rs542420576 |
Gnomad | rs542420576 |
Varsome | rs542420576 |
LitVar | rs542420576 |
Map | rs542420576 |
PheGenI | rs542420576 |
Biobank | rs542420576 |
1000 genomes | rs542420576 |
hgdp | rs542420576 |
ensembl | rs542420576 |
geneview | rs542420576 |
scholar | rs542420576 |
rs542420576 | |
pharmgkb | rs542420576 |
gwascentral | rs542420576 |
openSNP | rs542420576 |
23andMe | rs542420576 |
SNPshot | rs542420576 |
SNPdbe | rs542420576 |
MSV3d | rs542420576 |
GWAS Ctlg | rs542420576 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs542420576(A;A) rs542420576(T;T) |
Alt | rs542420576(A;A) rs542420576(T;T) |
Reference | Rs542420576(G;G) |
Significance | Pathogenic |
Disease | Severe myoclonic epilepsy in infancy |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | Severe myoclonic epilepsy in infancy |
Reversed | 0 |
HGVS | NC_000002.11:g.166892881G>A |
CLNSRC | Peking University |
CLNACC | RCV000180930.1, |