rs121917962
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs121917962(A;G) |
Make rs121917962(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 165998129 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs121917962 |
dbSNP (classic) | rs121917962 |
ClinGen | rs121917962 |
ebi | rs121917962 |
HLI | rs121917962 |
Exac | rs121917962 |
Gnomad | rs121917962 |
Varsome | rs121917962 |
LitVar | rs121917962 |
Map | rs121917962 |
PheGenI | rs121917962 |
Biobank | rs121917962 |
1000 genomes | rs121917962 |
hgdp | rs121917962 |
ensembl | rs121917962 |
geneview | rs121917962 |
scholar | rs121917962 |
rs121917962 | |
pharmgkb | rs121917962 |
gwascentral | rs121917962 |
openSNP | rs121917962 |
23andMe | rs121917962 |
SNPshot | rs121917962 |
SNPdbe | rs121917962 |
MSV3d | rs121917962 |
GWAS Ctlg | rs121917962 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121917962(G;G) |
Alt | rs121917962(G;G) |
Reference | Rs121917962(A;A) |
Significance | Untested |
Disease | Severe myoclonic epilepsy in infancy |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | Severe myoclonic epilepsy in infancy |
Reversed | 1 |
HGVS | NC_000002.11:g.166854639T>C |
CLNSRC | UniProtKB (variants) |
CLNACC | RCV000059419.1, |