rs80356474
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs80356474(C;C) |
| Make rs80356474(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 166277281 |
| Gene | LOC101929680, SCN9A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356474 |
| dbSNP (classic) | rs80356474 |
| ClinGen | rs80356474 |
| ebi | rs80356474 |
| HLI | rs80356474 |
| Exac | rs80356474 |
| Gnomad | rs80356474 |
| Varsome | rs80356474 |
| LitVar | rs80356474 |
| Map | rs80356474 |
| PheGenI | rs80356474 |
| Biobank | rs80356474 |
| 1000 genomes | rs80356474 |
| hgdp | rs80356474 |
| ensembl | rs80356474 |
| geneview | rs80356474 |
| scholar | rs80356474 |
| rs80356474 | |
| pharmgkb | rs80356474 |
| gwascentral | rs80356474 |
| openSNP | rs80356474 |
| 23andMe | rs80356474 |
| SNPshot | rs80356474 |
| SNPdbe | rs80356474 |
| MSV3d | rs80356474 |
| GWAS Ctlg | rs80356474 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356474(C;C) |
| Alt | rs80356474(C;C) |
| Reference | Rs80356474(T;T) |
| Significance | Pathogenic |
| Disease | Primary erythromelalgia |
| Variation | info |
| Gene | LOC101929680 SCN9A |
| CLNDBN | Primary erythromelalgia |
| Reversed | 1 |
| HGVS | NC_000002.11:g.167133791A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006722.3, |
[PMID 14985375
] Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.
[PMID 15385606] Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.
[PMID 15955112] SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.
[PMID 18347287] Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.
