rs762659685
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs762659685(C;T) |
Make rs762659685(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 9822286 |
Gene | GRIN2A |
is a | snp |
is | mentioned by |
dbSNP | rs762659685 |
dbSNP (classic) | rs762659685 |
ClinGen | rs762659685 |
ebi | rs762659685 |
HLI | rs762659685 |
Exac | rs762659685 |
Gnomad | rs762659685 |
Varsome | rs762659685 |
LitVar | rs762659685 |
Map | rs762659685 |
PheGenI | rs762659685 |
Biobank | rs762659685 |
1000 genomes | rs762659685 |
hgdp | rs762659685 |
ensembl | rs762659685 |
geneview | rs762659685 |
scholar | rs762659685 |
rs762659685 | |
pharmgkb | rs762659685 |
gwascentral | rs762659685 |
openSNP | rs762659685 |
23andMe | rs762659685 |
SNPshot | rs762659685 |
SNPdbe | rs762659685 |
MSV3d | rs762659685 |
GWAS Ctlg | rs762659685 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762659685(T;T) |
Alt | rs762659685(T;T) |
Reference | Rs762659685(C;C) |
Significance | Pathogenic |
Disease | not provided Epilepsy |
Variation | info |
Gene | GRIN2A |
CLNDBN | not provided Epilepsy, focal, with speech disorder and with or without mental retardation |
Reversed | 0 |
HGVS | NC_000016.9:g.9916143C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000187642.2, RCV000254568.1, |