rs113019349
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs113019349(C;G) |
| Make rs113019349(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 6616004 |
| Gene | TPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113019349 |
| dbSNP (classic) | rs113019349 |
| ClinGen | rs113019349 |
| ebi | rs113019349 |
| HLI | rs113019349 |
| Exac | rs113019349 |
| Gnomad | rs113019349 |
| Varsome | rs113019349 |
| LitVar | rs113019349 |
| Map | rs113019349 |
| PheGenI | rs113019349 |
| Biobank | rs113019349 |
| 1000 genomes | rs113019349 |
| hgdp | rs113019349 |
| ensembl | rs113019349 |
| geneview | rs113019349 |
| scholar | rs113019349 |
| rs113019349 | |
| pharmgkb | rs113019349 |
| gwascentral | rs113019349 |
| openSNP | rs113019349 |
| 23andMe | rs113019349 |
| SNPshot | rs113019349 |
| SNPdbe | rs113019349 |
| MSV3d | rs113019349 |
| GWAS Ctlg | rs113019349 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs113019349(G;G) rs113019349(T;T) |
| Alt | rs113019349(G;G) rs113019349(T;T) |
| Reference | Rs113019349(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 2 |
| Variation | info |
| Gene | TPP1 |
| CLNDBN | Ceroid lipofuscinosis neuronal 2 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.6637235C>T |
| CLNSRC | |
| CLNACC | RCV000411197.1, |
