rs483352920
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs483352920(C;C) |
| Make rs483352920(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 38894936 |
| Gene | SCN11A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs483352920 |
| dbSNP (classic) | rs483352920 |
| ClinGen | rs483352920 |
| ebi | rs483352920 |
| HLI | rs483352920 |
| Exac | rs483352920 |
| Gnomad | rs483352920 |
| Varsome | rs483352920 |
| LitVar | rs483352920 |
| Map | rs483352920 |
| PheGenI | rs483352920 |
| Biobank | rs483352920 |
| 1000 genomes | rs483352920 |
| hgdp | rs483352920 |
| ensembl | rs483352920 |
| geneview | rs483352920 |
| scholar | rs483352920 |
| rs483352920 | |
| pharmgkb | rs483352920 |
| gwascentral | rs483352920 |
| openSNP | rs483352920 |
| 23andMe | rs483352920 |
| SNPshot | rs483352920 |
| SNPdbe | rs483352920 |
| MSV3d | rs483352920 |
| GWAS Ctlg | rs483352920 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs483352920(C;C) |
| Alt | rs483352920(C;C) |
| Reference | Rs483352920(T;T) |
| Significance | Pathogenic |
| Disease | Neuropathy |
| Variation | info |
| Gene | SCN11A |
| CLNDBN | Neuropathy, hereditary sensory and autonomic, type VII |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38936427A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000074494.3, |
