rs267607198
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs267607198(G;T) |
| Make rs267607198(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 63413551 |
| Gene | KCNQ2, LOC105372724 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607198 |
| dbSNP (classic) | rs267607198 |
| ClinGen | rs267607198 |
| ebi | rs267607198 |
| HLI | rs267607198 |
| Exac | rs267607198 |
| Gnomad | rs267607198 |
| Varsome | rs267607198 |
| LitVar | rs267607198 |
| Map | rs267607198 |
| PheGenI | rs267607198 |
| Biobank | rs267607198 |
| 1000 genomes | rs267607198 |
| hgdp | rs267607198 |
| ensembl | rs267607198 |
| geneview | rs267607198 |
| scholar | rs267607198 |
| rs267607198 | |
| pharmgkb | rs267607198 |
| gwascentral | rs267607198 |
| openSNP | rs267607198 |
| 23andMe | rs267607198 |
| SNPshot | rs267607198 |
| SNPdbe | rs267607198 |
| MSV3d | rs267607198 |
| GWAS Ctlg | rs267607198 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs267607198(A;A) rs267607198(T;T) |
| Alt | rs267607198(A;A) rs267607198(T;T) |
| Reference | Rs267607198(G;G) |
| Significance | Pathogenic |
| Disease | Benign familial neonatal seizures 1 Benign familial neonatal seizures 2 Early infantile epileptic encephalopathy 7 |
| Variation | info |
| Gene | KCNQ2 |
| CLNDBN | Benign familial neonatal seizures 1 Benign familial neonatal seizures 2 Early infantile epileptic encephalopathy 7 |
| Reversed | 1 |
| HGVS | NC_000020.10:g.62044904C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007813.3, RCV000021081.2, RCV000023180.3, |
