rs778232650
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CTCCATAG;CTCCATAG) | 0 | common in clinvar |
| Make rs778232650(-;-) |
| Make rs778232650(-;CTCCATAG) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 6616411 |
| Gene | TPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs778232650 |
| dbSNP (classic) | rs778232650 |
| ClinGen | rs778232650 |
| ebi | rs778232650 |
| HLI | rs778232650 |
| Exac | rs778232650 |
| Gnomad | rs778232650 |
| Varsome | rs778232650 |
| LitVar | rs778232650 |
| Map | rs778232650 |
| PheGenI | rs778232650 |
| Biobank | rs778232650 |
| 1000 genomes | rs778232650 |
| hgdp | rs778232650 |
| ensembl | rs778232650 |
| geneview | rs778232650 |
| scholar | rs778232650 |
| rs778232650 | |
| pharmgkb | rs778232650 |
| gwascentral | rs778232650 |
| openSNP | rs778232650 |
| 23andMe | rs778232650 |
| SNPshot | rs778232650 |
| SNPdbe | rs778232650 |
| MSV3d | rs778232650 |
| GWAS Ctlg | rs778232650 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs778232650(-;-) |
| Alt | rs778232650(-;-) |
| Reference | Rs778232650(CTCCATAG;CTCCATAG) |
| Significance | Probable-Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 2 |
| Variation | info |
| Gene | TPP1 |
| CLNDBN | Ceroid lipofuscinosis neuronal 2 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.6637642_6637649delCTCCATAG |
| CLNSRC | Counsyl |
| CLNACC | RCV000169200.1, |
