rs786204644
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AT;AT) | 0 | common in clinvar |
| Make rs786204644(-;-) |
| Make rs786204644(-;AT) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 13 |
| Position | 77000669 |
| Gene | CLN5, FBXL3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786204644 |
| dbSNP (classic) | rs786204644 |
| ClinGen | rs786204644 |
| ebi | rs786204644 |
| HLI | rs786204644 |
| Exac | rs786204644 |
| Gnomad | rs786204644 |
| Varsome | rs786204644 |
| LitVar | rs786204644 |
| Map | rs786204644 |
| PheGenI | rs786204644 |
| Biobank | rs786204644 |
| 1000 genomes | rs786204644 |
| hgdp | rs786204644 |
| ensembl | rs786204644 |
| geneview | rs786204644 |
| scholar | rs786204644 |
| rs786204644 | |
| pharmgkb | rs786204644 |
| gwascentral | rs786204644 |
| openSNP | rs786204644 |
| 23andMe | rs786204644 |
| SNPshot | rs786204644 |
| SNPdbe | rs786204644 |
| MSV3d | rs786204644 |
| GWAS Ctlg | rs786204644 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs786204644(-;-) |
| Alt | rs786204644(-;-) |
| Reference | Rs786204644(AT;AT) |
| Significance | Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 5 not provided Neuronal ceroid lipofuscinosis |
| Variation | info |
| Gene | CLN5 |
| CLNDBN | Ceroid lipofuscinosis neuronal 5 not provided Neuronal ceroid lipofuscinosis |
| Reversed | 0 |
| HGVS | NC_000013.10:g.77574804_77574805delAT |
| CLNSRC | |
| CLNACC | RCV000169429.1, RCV000413943.1, RCV000468638.1, |
