rs118192248
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs118192248(A;G) |
| Make rs118192248(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 132175472 |
| Gene | KCNQ3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118192248 |
| dbSNP (classic) | rs118192248 |
| ClinGen | rs118192248 |
| ebi | rs118192248 |
| HLI | rs118192248 |
| Exac | rs118192248 |
| Gnomad | rs118192248 |
| Varsome | rs118192248 |
| LitVar | rs118192248 |
| Map | rs118192248 |
| PheGenI | rs118192248 |
| Biobank | rs118192248 |
| 1000 genomes | rs118192248 |
| hgdp | rs118192248 |
| ensembl | rs118192248 |
| geneview | rs118192248 |
| scholar | rs118192248 |
| rs118192248 | |
| pharmgkb | rs118192248 |
| gwascentral | rs118192248 |
| openSNP | rs118192248 |
| 23andMe | rs118192248 |
| SNPshot | rs118192248 |
| SNPdbe | rs118192248 |
| MSV3d | rs118192248 |
| GWAS Ctlg | rs118192248 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs118192248(G;G) |
| Alt | rs118192248(G;G) |
| Reference | Rs118192248(A;A) |
| Significance | Pathogenic |
| Disease | Benign familial neonatal seizures 2 |
| Variation | info |
| Gene | KCNQ3 |
| CLNDBN | Benign familial neonatal seizures 2 |
| Reversed | 1 |
| HGVS | NC_000008.10:g.133187719T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000020600.1, |
