rs149782619
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs149782619(C;G) |
| Make rs149782619(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 131165096 |
| Gene | HINT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149782619 |
| dbSNP (classic) | rs149782619 |
| ClinGen | rs149782619 |
| ebi | rs149782619 |
| HLI | rs149782619 |
| Exac | rs149782619 |
| Gnomad | rs149782619 |
| Varsome | rs149782619 |
| LitVar | rs149782619 |
| Map | rs149782619 |
| PheGenI | rs149782619 |
| Biobank | rs149782619 |
| 1000 genomes | rs149782619 |
| hgdp | rs149782619 |
| ensembl | rs149782619 |
| geneview | rs149782619 |
| scholar | rs149782619 |
| rs149782619 | |
| pharmgkb | rs149782619 |
| gwascentral | rs149782619 |
| openSNP | rs149782619 |
| 23andMe | rs149782619 |
| SNPshot | rs149782619 |
| SNPdbe | rs149782619 |
| MSV3d | rs149782619 |
| GWAS Ctlg | rs149782619 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs149782619(G;G) |
| Alt | rs149782619(G;G) |
| Reference | Rs149782619(C;C) |
| Significance | Pathogenic |
| Disease | Neuromyotonia and axonal neuropathy not provided |
| Variation | info |
| Gene | HINT1 |
| CLNDBN | Neuromyotonia and axonal neuropathy, autosomal recessive not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.130500789C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000030852.2, RCV000235535.1, |
