rs779614747
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs779614747(G;T) |
Make rs779614747(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 165991619 |
Gene | LOC102724058, SCN1A |
is a | snp |
is | mentioned by |
dbSNP | rs779614747 |
dbSNP (classic) | rs779614747 |
ClinGen | rs779614747 |
ebi | rs779614747 |
HLI | rs779614747 |
Exac | rs779614747 |
Gnomad | rs779614747 |
Varsome | rs779614747 |
LitVar | rs779614747 |
Map | rs779614747 |
PheGenI | rs779614747 |
Biobank | rs779614747 |
1000 genomes | rs779614747 |
hgdp | rs779614747 |
ensembl | rs779614747 |
geneview | rs779614747 |
scholar | rs779614747 |
rs779614747 | |
pharmgkb | rs779614747 |
gwascentral | rs779614747 |
openSNP | rs779614747 |
23andMe | rs779614747 |
SNPshot | rs779614747 |
SNPdbe | rs779614747 |
MSV3d | rs779614747 |
GWAS Ctlg | rs779614747 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779614747(A;A) rs779614747(T;T) |
Alt | rs779614747(A;A) rs779614747(T;T) |
Reference | Rs779614747(G;G) |
Significance | Pathogenic |
Disease | Severe myoclonic epilepsy in infancy not provided |
Variation | info |
Gene | LOC102724058 SCN1A |
CLNDBN | Severe myoclonic epilepsy in infancy not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.166848129G>A |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000180864.2, RCV000189014.2, |