rs878855331
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TCCCCACATCCCTACCAGCTTCCACAGGCCTTGG;TCCCCACATCCCTACCAGCTTCCACAGGCCTTGG) | 0 | common in clinvar |
| Make rs878855331(-;-) |
| Make rs878855331(-;TCCCCACATCCCTACCAGCTTCCACAGGCCTTGG) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 11 |
| Position | 6617319 |
| Gene | TPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs878855331 |
| dbSNP (classic) | rs878855331 |
| ClinGen | rs878855331 |
| ebi | rs878855331 |
| HLI | rs878855331 |
| Exac | rs878855331 |
| Gnomad | rs878855331 |
| Varsome | rs878855331 |
| LitVar | rs878855331 |
| Map | rs878855331 |
| PheGenI | rs878855331 |
| Biobank | rs878855331 |
| 1000 genomes | rs878855331 |
| hgdp | rs878855331 |
| ensembl | rs878855331 |
| geneview | rs878855331 |
| scholar | rs878855331 |
| rs878855331 | |
| pharmgkb | rs878855331 |
| gwascentral | rs878855331 |
| openSNP | rs878855331 |
| 23andMe | rs878855331 |
| SNPshot | rs878855331 |
| SNPdbe | rs878855331 |
| MSV3d | rs878855331 |
| GWAS Ctlg | rs878855331 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs878855331(-;-) |
| Alt | rs878855331(-;-) |
| Reference | Rs878855331(TCCCCACATCCCTACCAGCTTCCACAGGCCTTGG;TCCCCACATCCCTACCAGCTTCCACAGGCCTTGG) |
| Significance | Probable-Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 2 |
| Variation | info |
| Gene | TPP1 |
| CLNDBN | Ceroid lipofuscinosis neuronal 2 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.6638550_6638583del34 |
| CLNSRC | Institute of Human Genetics |
| CLNACC | RCV000234817.1, |
