rs118192197
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CTGCGCTCCG;CTGCGCTCCG) | 0 | common in clinvar |
| Make rs118192197(A;A) |
| Make rs118192197(A;CTGCGCTCCG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 63444756 |
| Gene | KCNQ2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118192197 |
| dbSNP (classic) | rs118192197 |
| ClinGen | rs118192197 |
| ebi | rs118192197 |
| HLI | rs118192197 |
| Exac | rs118192197 |
| Gnomad | rs118192197 |
| Varsome | rs118192197 |
| LitVar | rs118192197 |
| Map | rs118192197 |
| PheGenI | rs118192197 |
| Biobank | rs118192197 |
| 1000 genomes | rs118192197 |
| hgdp | rs118192197 |
| ensembl | rs118192197 |
| geneview | rs118192197 |
| scholar | rs118192197 |
| rs118192197 | |
| pharmgkb | rs118192197 |
| gwascentral | rs118192197 |
| openSNP | rs118192197 |
| 23andMe | rs118192197 |
| SNPshot | rs118192197 |
| SNPdbe | rs118192197 |
| MSV3d | rs118192197 |
| GWAS Ctlg | rs118192197 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs118192197(A;A) |
| Alt | rs118192197(A;A) |
| Reference | Rs118192197(CTGCGCTCCG;CTGCGCTCCG) |
| Significance | Pathogenic |
| Disease | Epileptic encephalopathy |
| Variation | info |
| Gene | KCNQ2 |
| CLNDBN | Epileptic encephalopathy, early infantile, 1 |
| Reversed | 1 |
| HGVS | NC_000020.10:g.62076109_62076118delCGGAGCGCAGinsT |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020998.1, |
