rs869312669
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs869312669(A;C) |
Make rs869312669(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 13571922 |
Gene | GRIN2B |
is a | snp |
is | mentioned by |
dbSNP | rs869312669 |
dbSNP (classic) | rs869312669 |
ClinGen | rs869312669 |
ebi | rs869312669 |
HLI | rs869312669 |
Exac | rs869312669 |
Gnomad | rs869312669 |
Varsome | rs869312669 |
LitVar | rs869312669 |
Map | rs869312669 |
PheGenI | rs869312669 |
Biobank | rs869312669 |
1000 genomes | rs869312669 |
hgdp | rs869312669 |
ensembl | rs869312669 |
geneview | rs869312669 |
scholar | rs869312669 |
rs869312669 | |
pharmgkb | rs869312669 |
gwascentral | rs869312669 |
openSNP | rs869312669 |
23andMe | rs869312669 |
SNPshot | rs869312669 |
SNPdbe | rs869312669 |
MSV3d | rs869312669 |
GWAS Ctlg | rs869312669 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312669(C;C) |
Alt | rs869312669(C;C) |
Reference | Rs869312669(A;A) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | GRIN2B |
CLNDBN | Epileptic encephalopathy, early infantile, 27 |
Reversed | 1 |
HGVS | NC_000012.11:g.13724856T>G |
CLNSRC | |
CLNACC | RCV000209917.2, |