rs118192211
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs118192211(C;G) |
| Make rs118192211(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 63439644 |
| Gene | KCNQ2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118192211 |
| dbSNP (classic) | rs118192211 |
| ClinGen | rs118192211 |
| ebi | rs118192211 |
| HLI | rs118192211 |
| Exac | rs118192211 |
| Gnomad | rs118192211 |
| Varsome | rs118192211 |
| LitVar | rs118192211 |
| Map | rs118192211 |
| PheGenI | rs118192211 |
| Biobank | rs118192211 |
| 1000 genomes | rs118192211 |
| hgdp | rs118192211 |
| ensembl | rs118192211 |
| geneview | rs118192211 |
| scholar | rs118192211 |
| rs118192211 | |
| pharmgkb | rs118192211 |
| gwascentral | rs118192211 |
| openSNP | rs118192211 |
| 23andMe | rs118192211 |
| SNPshot | rs118192211 |
| SNPdbe | rs118192211 |
| MSV3d | rs118192211 |
| GWAS Ctlg | rs118192211 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs118192211(G;G) rs118192211(T;T) |
| Alt | rs118192211(G;G) rs118192211(T;T) |
| Reference | Rs118192211(C;C) |
| Significance | Pathogenic |
| Disease | not provided Early infantile epileptic encephalopathy 7 Epileptic encephalopathy Early infantile epileptic encephalopathy Benign familial neonatal seizures 1 |
| Variation | info |
| Gene | KCNQ2 |
| CLNDBN | not provided Early infantile epileptic encephalopathy 7 Epileptic encephalopathy Early infantile epileptic encephalopathy Benign familial neonatal seizures 1 |
| Reversed | 1 |
| HGVS | NC_000020.10:g.62070997G>A; NC_000020.10:g.62070997G>C |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000187883.2, RCV000203604.2, RCV000417034.1, RCV000473067.1, RCV000021015.2, |
