rs746645358
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs746645358(A;A) |
| Make rs746645358(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 8 |
| Position | 1780415 |
| Gene | CLN8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs746645358 |
| dbSNP (classic) | rs746645358 |
| ClinGen | rs746645358 |
| ebi | rs746645358 |
| HLI | rs746645358 |
| Exac | rs746645358 |
| Gnomad | rs746645358 |
| Varsome | rs746645358 |
| LitVar | rs746645358 |
| Map | rs746645358 |
| PheGenI | rs746645358 |
| Biobank | rs746645358 |
| 1000 genomes | rs746645358 |
| hgdp | rs746645358 |
| ensembl | rs746645358 |
| geneview | rs746645358 |
| scholar | rs746645358 |
| rs746645358 | |
| pharmgkb | rs746645358 |
| gwascentral | rs746645358 |
| openSNP | rs746645358 |
| 23andMe | rs746645358 |
| SNPshot | rs746645358 |
| SNPdbe | rs746645358 |
| MSV3d | rs746645358 |
| GWAS Ctlg | rs746645358 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs746645358(A;A) |
| Alt | rs746645358(A;A) |
| Reference | Rs746645358(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 8 not provided |
| Variation | info |
| Gene | CLN8 |
| CLNDBN | Ceroid lipofuscinosis neuronal 8 not provided |
| Reversed | 0 |
| HGVS | NC_000008.10:g.1728581G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169279.1, RCV000187126.2, |
