rs606231279
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs606231279(G;TT) |
| Make rs606231279(TT;TT) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 166228871 |
| Gene | LOC101929680, SCN9A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs606231279 |
| dbSNP (classic) | rs606231279 |
| ClinGen | rs606231279 |
| ebi | rs606231279 |
| HLI | rs606231279 |
| Exac | rs606231279 |
| Gnomad | rs606231279 |
| Varsome | rs606231279 |
| LitVar | rs606231279 |
| Map | rs606231279 |
| PheGenI | rs606231279 |
| Biobank | rs606231279 |
| 1000 genomes | rs606231279 |
| hgdp | rs606231279 |
| ensembl | rs606231279 |
| geneview | rs606231279 |
| scholar | rs606231279 |
| rs606231279 | |
| pharmgkb | rs606231279 |
| gwascentral | rs606231279 |
| openSNP | rs606231279 |
| 23andMe | rs606231279 |
| SNPshot | rs606231279 |
| SNPdbe | rs606231279 |
| MSV3d | rs606231279 |
| GWAS Ctlg | rs606231279 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs606231279(TT;TT) |
| Alt | rs606231279(TT;TT) |
| Reference | Rs606231279(G;G) |
| Significance | Pathogenic |
| Disease | NEUROPATHY Indifference to pain |
| Variation | info |
| Gene | LOC101929680 SCN9A |
| CLNDBN | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID Indifference to pain, congenital, autosomal recessive |
| Reversed | 1 |
| HGVS | NC_000002.11:g.167085381delCinsAA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000144933.3, RCV000192063.1, |
