rs796053124
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs796053124(G;T) |
Make rs796053124(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 165354232 |
Gene | SCN2A |
is a | snp |
is | mentioned by |
dbSNP | rs796053124 |
dbSNP (classic) | rs796053124 |
ClinGen | rs796053124 |
ebi | rs796053124 |
HLI | rs796053124 |
Exac | rs796053124 |
Gnomad | rs796053124 |
Varsome | rs796053124 |
LitVar | rs796053124 |
Map | rs796053124 |
PheGenI | rs796053124 |
Biobank | rs796053124 |
1000 genomes | rs796053124 |
hgdp | rs796053124 |
ensembl | rs796053124 |
geneview | rs796053124 |
scholar | rs796053124 |
rs796053124 | |
pharmgkb | rs796053124 |
gwascentral | rs796053124 |
openSNP | rs796053124 |
23andMe | rs796053124 |
SNPshot | rs796053124 |
SNPdbe | rs796053124 |
MSV3d | rs796053124 |
GWAS Ctlg | rs796053124 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796053124(T;T) |
Alt | rs796053124(T;T) |
Reference | Rs796053124(G;G) |
Significance | Pathogenic |
Disease | not provided Early infantile epileptic encephalopathy 11 Episodic ataxia Seizures Vertigo |
Variation | info |
Gene | SCN2A |
CLNDBN | not provided Early infantile epileptic encephalopathy 11 Episodic ataxia Seizures Vertigo |
Reversed | 0 |
HGVS | NC_000002.11:g.166210742G>T |
CLNSRC | |
CLNACC | RCV000189127.2, RCV000195526.1, RCV000417104.1, |