rs397518468
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397518468(C;T) |
Make rs397518468(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 9840706 |
Gene | GRIN2A |
is a | snp |
is | mentioned by |
dbSNP | rs397518468 |
dbSNP (classic) | rs397518468 |
ClinGen | rs397518468 |
ebi | rs397518468 |
HLI | rs397518468 |
Exac | rs397518468 |
Gnomad | rs397518468 |
Varsome | rs397518468 |
LitVar | rs397518468 |
Map | rs397518468 |
PheGenI | rs397518468 |
Biobank | rs397518468 |
1000 genomes | rs397518468 |
hgdp | rs397518468 |
ensembl | rs397518468 |
geneview | rs397518468 |
scholar | rs397518468 |
rs397518468 | |
pharmgkb | rs397518468 |
gwascentral | rs397518468 |
openSNP | rs397518468 |
23andMe | rs397518468 |
SNPshot | rs397518468 |
SNPdbe | rs397518468 |
MSV3d | rs397518468 |
GWAS Ctlg | rs397518468 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397518468(T;T) |
Alt | rs397518468(T;T) |
Reference | Rs397518468(C;C) |
Significance | Pathogenic |
Disease | Epilepsy |
Variation | info |
Gene | GRIN2A |
CLNDBN | Epilepsy, focal, with speech disorder and with or without mental retardation |
Reversed | 1 |
HGVS | NC_000016.9:g.9934563G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074389.27, |