rs281865067
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs281865067(-;GCT) |
| Make rs281865067(GCT;GCT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 63350538 |
| Gene | CHRNA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281865067 |
| dbSNP (classic) | rs281865067 |
| ClinGen | rs281865067 |
| ebi | rs281865067 |
| HLI | rs281865067 |
| Exac | rs281865067 |
| Gnomad | rs281865067 |
| Varsome | rs281865067 |
| LitVar | rs281865067 |
| Map | rs281865067 |
| PheGenI | rs281865067 |
| Biobank | rs281865067 |
| 1000 genomes | rs281865067 |
| hgdp | rs281865067 |
| ensembl | rs281865067 |
| geneview | rs281865067 |
| scholar | rs281865067 |
| rs281865067 | |
| pharmgkb | rs281865067 |
| gwascentral | rs281865067 |
| openSNP | rs281865067 |
| 23andMe | rs281865067 |
| SNPshot | rs281865067 |
| SNPdbe | rs281865067 |
| MSV3d | rs281865067 |
| GWAS Ctlg | rs281865067 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281865067(GCT;GCT) |
| Alt | rs281865067(GCT;GCT) |
| Reference | Rs281865067(-;-) |
| Significance | Pathogenic |
| Disease | Epilepsy |
| Variation | info |
| Gene | CHRNA4 |
| CLNDBN | Epilepsy, nocturnal frontal lobe, type 1 |
| Reversed | 1 |
| HGVS | NC_000020.10:g.61981891_61981893dupAGC |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000033927.2, |
