rs769743354
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs769743354(C;T) |
| Make rs769743354(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 5 |
| Position | 161854177 |
| Gene | GABRA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs769743354 |
| dbSNP (classic) | rs769743354 |
| ClinGen | rs769743354 |
| ebi | rs769743354 |
| HLI | rs769743354 |
| Exac | rs769743354 |
| Gnomad | rs769743354 |
| Varsome | rs769743354 |
| LitVar | rs769743354 |
| Map | rs769743354 |
| PheGenI | rs769743354 |
| Biobank | rs769743354 |
| 1000 genomes | rs769743354 |
| hgdp | rs769743354 |
| ensembl | rs769743354 |
| geneview | rs769743354 |
| scholar | rs769743354 |
| rs769743354 | |
| pharmgkb | rs769743354 |
| gwascentral | rs769743354 |
| openSNP | rs769743354 |
| 23andMe | rs769743354 |
| SNPshot | rs769743354 |
| SNPdbe | rs769743354 |
| MSV3d | rs769743354 |
| GWAS Ctlg | rs769743354 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs769743354(A;A) rs769743354(T;T) |
| Alt | rs769743354(A;A) rs769743354(T;T) |
| Reference | Rs769743354(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Epileptic encephalopathy not provided |
| Variation | info |
| Gene | GABRA1 |
| CLNDBN | Epileptic encephalopathy, early infantile, 19 not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.161281183C>T |
| CLNSRC | |
| CLNACC | RCV000209844.1, RCV000484867.1, |
