rs121918791
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918791(C;T) |
Make rs121918791(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 165992333 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs121918791 |
dbSNP (classic) | rs121918791 |
ClinGen | rs121918791 |
ebi | rs121918791 |
HLI | rs121918791 |
Exac | rs121918791 |
Gnomad | rs121918791 |
Varsome | rs121918791 |
LitVar | rs121918791 |
Map | rs121918791 |
PheGenI | rs121918791 |
Biobank | rs121918791 |
1000 genomes | rs121918791 |
hgdp | rs121918791 |
ensembl | rs121918791 |
geneview | rs121918791 |
scholar | rs121918791 |
rs121918791 | |
pharmgkb | rs121918791 |
gwascentral | rs121918791 |
openSNP | rs121918791 |
23andMe | rs121918791 |
SNPshot | rs121918791 |
SNPdbe | rs121918791 |
MSV3d | rs121918791 |
GWAS Ctlg | rs121918791 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918791(T;T) |
Alt | rs121918791(T;T) |
Reference | Rs121918791(C;C) |
Significance | Pathogenic |
Disease | Severe myoclonic epilepsy in infancy |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | Severe myoclonic epilepsy in infancy |
Reversed | 1 |
HGVS | NC_000002.11:g.166848843G>A |
CLNSRC | UniProtKB (variants) |
CLNACC | RCV000059520.2, |