rs41307846
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs41307846(A;A) |
| Make rs41307846(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 2028260 |
| Gene | GABRD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41307846 |
| dbSNP (classic) | rs41307846 |
| ClinGen | rs41307846 |
| ebi | rs41307846 |
| HLI | rs41307846 |
| Exac | rs41307846 |
| Gnomad | rs41307846 |
| Varsome | rs41307846 |
| LitVar | rs41307846 |
| Map | rs41307846 |
| PheGenI | rs41307846 |
| Biobank | rs41307846 |
| 1000 genomes | rs41307846 |
| hgdp | rs41307846 |
| ensembl | rs41307846 |
| geneview | rs41307846 |
| scholar | rs41307846 |
| rs41307846 | |
| pharmgkb | rs41307846 |
| gwascentral | rs41307846 |
| openSNP | rs41307846 |
| 23andMe | rs41307846 |
| SNPshot | rs41307846 |
| SNPdbe | rs41307846 |
| MSV3d | rs41307846 |
| GWAS Ctlg | rs41307846 |
| GMAF | 0.009642 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41307846(A;A) |
| Alt | rs41307846(A;A) |
| Reference | Rs41307846(G;G) |
| Significance | Other |
| Disease | Generalized epilepsy with febrile seizures plus type 5 Epilepsy |
| Variation | info |
| Gene | GABRD |
| CLNDBN | Generalized epilepsy with febrile seizures plus type 5 Epilepsy, juvenile myoclonic 7 Epilepsy, idiopathic generalized 10 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.1959699G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017599.2, RCV000017600.2, RCV000022558.2, |
