rs794729218
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs794729218(-;-) |
| Make rs794729218(-;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 13 |
| Position | 76995933 |
| Gene | CLN5, FBXL3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794729218 |
| dbSNP (classic) | rs794729218 |
| ClinGen | rs794729218 |
| ebi | rs794729218 |
| HLI | rs794729218 |
| Exac | rs794729218 |
| Gnomad | rs794729218 |
| Varsome | rs794729218 |
| LitVar | rs794729218 |
| Map | rs794729218 |
| PheGenI | rs794729218 |
| Biobank | rs794729218 |
| 1000 genomes | rs794729218 |
| hgdp | rs794729218 |
| ensembl | rs794729218 |
| geneview | rs794729218 |
| scholar | rs794729218 |
| rs794729218 | |
| pharmgkb | rs794729218 |
| gwascentral | rs794729218 |
| openSNP | rs794729218 |
| 23andMe | rs794729218 |
| SNPshot | rs794729218 |
| SNPdbe | rs794729218 |
| MSV3d | rs794729218 |
| GWAS Ctlg | rs794729218 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794729218(-;-) |
| Alt | rs794729218(-;-) |
| Reference | Rs794729218(G;G) |
| Significance | Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 5 |
| Variation | info |
| Gene | CLN5 |
| CLNDBN | Ceroid lipofuscinosis neuronal 5 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.77570068delG |
| CLNSRC | |
| CLNACC | RCV000184038.1, |
