rs774543080
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AG;AG) | 0 | common in clinvar |
| Make rs774543080(-;-) |
| Make rs774543080(-;AG) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 68211765 |
| Gene | CLN6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs774543080 |
| dbSNP (classic) | rs774543080 |
| ClinGen | rs774543080 |
| ebi | rs774543080 |
| HLI | rs774543080 |
| Exac | rs774543080 |
| Gnomad | rs774543080 |
| Varsome | rs774543080 |
| LitVar | rs774543080 |
| Map | rs774543080 |
| PheGenI | rs774543080 |
| Biobank | rs774543080 |
| 1000 genomes | rs774543080 |
| hgdp | rs774543080 |
| ensembl | rs774543080 |
| geneview | rs774543080 |
| scholar | rs774543080 |
| rs774543080 | |
| pharmgkb | rs774543080 |
| gwascentral | rs774543080 |
| openSNP | rs774543080 |
| 23andMe | rs774543080 |
| SNPshot | rs774543080 |
| SNPdbe | rs774543080 |
| MSV3d | rs774543080 |
| GWAS Ctlg | rs774543080 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs774543080(-;-) |
| Alt | rs774543080(-;-) |
| Reference | Rs774543080(AG;AG) |
| Significance | Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 6 not provided Neuronal ceroid lipofuscinosis |
| Variation | info |
| Gene | CLN6 |
| CLNDBN | Ceroid lipofuscinosis neuronal 6 not provided Neuronal ceroid lipofuscinosis |
| Reversed | 0 |
| HGVS | NC_000015.9:g.68504103_68504104delAG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004297.4, RCV000187113.2, RCV000465745.1, |
