rs80356477
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356477(G;T) |
| Make rs80356477(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 166277237 |
| Gene | LOC101929680, SCN9A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356477 |
| dbSNP (classic) | rs80356477 |
| ClinGen | rs80356477 |
| ebi | rs80356477 |
| HLI | rs80356477 |
| Exac | rs80356477 |
| Gnomad | rs80356477 |
| Varsome | rs80356477 |
| LitVar | rs80356477 |
| Map | rs80356477 |
| PheGenI | rs80356477 |
| Biobank | rs80356477 |
| 1000 genomes | rs80356477 |
| hgdp | rs80356477 |
| ensembl | rs80356477 |
| geneview | rs80356477 |
| scholar | rs80356477 |
| rs80356477 | |
| pharmgkb | rs80356477 |
| gwascentral | rs80356477 |
| openSNP | rs80356477 |
| 23andMe | rs80356477 |
| SNPshot | rs80356477 |
| SNPdbe | rs80356477 |
| MSV3d | rs80356477 |
| GWAS Ctlg | rs80356477 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356477(C;C) rs80356477(T;T) |
| Alt | rs80356477(C;C) rs80356477(T;T) |
| Reference | Rs80356477(G;G) |
| Significance | Pathogenic |
| Disease | Primary erythromelalgia |
| Variation | info |
| Gene | LOC101929680 SCN9A |
| CLNDBN | Primary erythromelalgia |
| Reversed | 1 |
| HGVS | NC_000002.11:g.167133747C>G |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020513.1, |
[PMID 17135418
] Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.
