rs58173258
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs58173258(A;A) |
| Make rs58173258(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 1206126 |
| Gene | CACNA1H |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58173258 |
| dbSNP (classic) | rs58173258 |
| ClinGen | rs58173258 |
| ebi | rs58173258 |
| HLI | rs58173258 |
| Exac | rs58173258 |
| Gnomad | rs58173258 |
| Varsome | rs58173258 |
| LitVar | rs58173258 |
| Map | rs58173258 |
| PheGenI | rs58173258 |
| Biobank | rs58173258 |
| 1000 genomes | rs58173258 |
| hgdp | rs58173258 |
| ensembl | rs58173258 |
| geneview | rs58173258 |
| scholar | rs58173258 |
| rs58173258 | |
| pharmgkb | rs58173258 |
| gwascentral | rs58173258 |
| openSNP | rs58173258 |
| 23andMe | rs58173258 |
| SNPshot | rs58173258 |
| SNPdbe | rs58173258 |
| MSV3d | rs58173258 |
| GWAS Ctlg | rs58173258 |
| GMAF | 0.001377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58173258(A;A) |
| Alt | rs58173258(A;A) |
| Reference | Rs58173258(G;G) |
| Significance | Other |
| Disease | Epilepsy |
| Variation | info |
| Gene | CACNA1H |
| CLNDBN | Epilepsy, idiopathic generalized 6 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.1256126G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002825.2, |
