rs154774633
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs154774633(C;C) |
| Make rs154774633(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 68214387 |
| Gene | CLN6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs154774633 |
| dbSNP (classic) | rs154774633 |
| ClinGen | rs154774633 |
| ebi | rs154774633 |
| HLI | rs154774633 |
| Exac | rs154774633 |
| Gnomad | rs154774633 |
| Varsome | rs154774633 |
| LitVar | rs154774633 |
| Map | rs154774633 |
| PheGenI | rs154774633 |
| Biobank | rs154774633 |
| 1000 genomes | rs154774633 |
| hgdp | rs154774633 |
| ensembl | rs154774633 |
| geneview | rs154774633 |
| scholar | rs154774633 |
| rs154774633 | |
| pharmgkb | rs154774633 |
| gwascentral | rs154774633 |
| openSNP | rs154774633 |
| 23andMe | rs154774633 |
| SNPshot | rs154774633 |
| SNPdbe | rs154774633 |
| MSV3d | rs154774633 |
| GWAS Ctlg | rs154774633 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs154774633(C;C) |
| Alt | rs154774633(C;C) |
| Reference | Rs154774633(T;T) |
| Significance | Pathogenic |
| Disease | Adult neuronal ceroid lipofuscinosis not provided |
| Variation | info |
| Gene | CLN6 |
| CLNDBN | Adult neuronal ceroid lipofuscinosis not provided |
| Reversed | 1 |
| HGVS | NC_000015.9:g.68506725A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023572.2, RCV000058909.1, |
[PMID 21549341
] Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
