rs752164603
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs752164603(A;A) |
| Make rs752164603(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 6617022 |
| Gene | TPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs752164603 |
| dbSNP (classic) | rs752164603 |
| ClinGen | rs752164603 |
| ebi | rs752164603 |
| HLI | rs752164603 |
| Exac | rs752164603 |
| Gnomad | rs752164603 |
| Varsome | rs752164603 |
| LitVar | rs752164603 |
| Map | rs752164603 |
| PheGenI | rs752164603 |
| Biobank | rs752164603 |
| 1000 genomes | rs752164603 |
| hgdp | rs752164603 |
| ensembl | rs752164603 |
| geneview | rs752164603 |
| scholar | rs752164603 |
| rs752164603 | |
| pharmgkb | rs752164603 |
| gwascentral | rs752164603 |
| openSNP | rs752164603 |
| 23andMe | rs752164603 |
| SNPshot | rs752164603 |
| SNPdbe | rs752164603 |
| MSV3d | rs752164603 |
| GWAS Ctlg | rs752164603 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs752164603(A;A) |
| Alt | rs752164603(A;A) |
| Reference | Rs752164603(G;G) |
| Significance | Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 2 |
| Variation | info |
| Gene | TPP1 |
| CLNDBN | Ceroid lipofuscinosis neuronal 2 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.6638253G>A |
| CLNSRC | |
| CLNACC | RCV000411357.1, |
