rs755445790
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs755445790(C;C) |
| Make rs755445790(C;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 6616513 |
| Gene | TPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs755445790 |
| dbSNP (classic) | rs755445790 |
| ClinGen | rs755445790 |
| ebi | rs755445790 |
| HLI | rs755445790 |
| Exac | rs755445790 |
| Gnomad | rs755445790 |
| Varsome | rs755445790 |
| LitVar | rs755445790 |
| Map | rs755445790 |
| PheGenI | rs755445790 |
| Biobank | rs755445790 |
| 1000 genomes | rs755445790 |
| hgdp | rs755445790 |
| ensembl | rs755445790 |
| geneview | rs755445790 |
| scholar | rs755445790 |
| rs755445790 | |
| pharmgkb | rs755445790 |
| gwascentral | rs755445790 |
| openSNP | rs755445790 |
| 23andMe | rs755445790 |
| SNPshot | rs755445790 |
| SNPdbe | rs755445790 |
| MSV3d | rs755445790 |
| GWAS Ctlg | rs755445790 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs755445790(C;C) |
| Alt | rs755445790(C;C) |
| Reference | Rs755445790(T;T) |
| Significance | Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 2 not specified |
| Variation | info |
| Gene | TPP1 |
| CLNDBN | Ceroid lipofuscinosis neuronal 2 not specified |
| Reversed | 0 |
| HGVS | NC_000011.9:g.6637744T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002768.3, RCV000359791.1, |
