rs376808313
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs376808313(G;G) |
| Make rs376808313(G;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 10 |
| Position | 49620520 |
| Gene | CHAT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs376808313 |
| dbSNP (classic) | rs376808313 |
| ClinGen | rs376808313 |
| ebi | rs376808313 |
| HLI | rs376808313 |
| Exac | rs376808313 |
| Gnomad | rs376808313 |
| Varsome | rs376808313 |
| LitVar | rs376808313 |
| Map | rs376808313 |
| PheGenI | rs376808313 |
| Biobank | rs376808313 |
| 1000 genomes | rs376808313 |
| hgdp | rs376808313 |
| ensembl | rs376808313 |
| geneview | rs376808313 |
| scholar | rs376808313 |
| rs376808313 | |
| pharmgkb | rs376808313 |
| gwascentral | rs376808313 |
| openSNP | rs376808313 |
| 23andMe | rs376808313 |
| SNPshot | rs376808313 |
| SNPdbe | rs376808313 |
| MSV3d | rs376808313 |
| GWAS Ctlg | rs376808313 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs376808313(C;C) rs376808313(G;G) |
| Alt | rs376808313(C;C) rs376808313(G;G) |
| Reference | Rs376808313(T;T) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | CHAT |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.50828566T>G |
| CLNSRC | |
| CLNACC | RCV000494066.1, |
