rs672601378
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs672601378(A;A) |
| Make rs672601378(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 12 |
| Position | 13615149 |
| Gene | GRIN2B, LOC105369668 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs672601378 |
| dbSNP (classic) | rs672601378 |
| ClinGen | rs672601378 |
| ebi | rs672601378 |
| HLI | rs672601378 |
| Exac | rs672601378 |
| Gnomad | rs672601378 |
| Varsome | rs672601378 |
| LitVar | rs672601378 |
| Map | rs672601378 |
| PheGenI | rs672601378 |
| Biobank | rs672601378 |
| 1000 genomes | rs672601378 |
| hgdp | rs672601378 |
| ensembl | rs672601378 |
| geneview | rs672601378 |
| scholar | rs672601378 |
| rs672601378 | |
| pharmgkb | rs672601378 |
| gwascentral | rs672601378 |
| openSNP | rs672601378 |
| 23andMe | rs672601378 |
| SNPshot | rs672601378 |
| SNPdbe | rs672601378 |
| MSV3d | rs672601378 |
| GWAS Ctlg | rs672601378 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs672601378(A;A) |
| Alt | rs672601378(A;A) |
| Reference | Rs672601378(G;G) |
| Significance | Pathogenic |
| Disease | Epileptic encephalopathy |
| Variation | info |
| Gene | GRIN2B |
| CLNDBN | Epileptic encephalopathy, early infantile, 27 |
| Reversed | 1 |
| HGVS | NC_000012.11:g.13768083C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000149505.2, |
