rs869312663
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs869312663(A;G) |
Make rs869312663(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 165381114 |
Gene | SCN2A |
is a | snp |
is | mentioned by |
dbSNP | rs869312663 |
dbSNP (classic) | rs869312663 |
ClinGen | rs869312663 |
ebi | rs869312663 |
HLI | rs869312663 |
Exac | rs869312663 |
Gnomad | rs869312663 |
Varsome | rs869312663 |
LitVar | rs869312663 |
Map | rs869312663 |
PheGenI | rs869312663 |
Biobank | rs869312663 |
1000 genomes | rs869312663 |
hgdp | rs869312663 |
ensembl | rs869312663 |
geneview | rs869312663 |
scholar | rs869312663 |
rs869312663 | |
pharmgkb | rs869312663 |
gwascentral | rs869312663 |
openSNP | rs869312663 |
23andMe | rs869312663 |
SNPshot | rs869312663 |
SNPdbe | rs869312663 |
MSV3d | rs869312663 |
GWAS Ctlg | rs869312663 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312663(G;G) |
Alt | rs869312663(G;G) |
Reference | Rs869312663(A;A) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 11 |
Variation | info |
Gene | SCN2A |
CLNDBN | Early infantile epileptic encephalopathy 11 |
Reversed | 0 |
HGVS | NC_000002.11:g.166237624A>G |
CLNSRC | |
CLNACC | RCV000209898.1, |