rs28940573
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (G;G) | 0 |
| Make rs28940573(C;T) |
| Make rs28940573(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 6617046 |
| Gene | TPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28940573 |
| dbSNP (classic) | rs28940573 |
| ClinGen | rs28940573 |
| ebi | rs28940573 |
| HLI | rs28940573 |
| Exac | rs28940573 |
| Gnomad | rs28940573 |
| Varsome | rs28940573 |
| LitVar | rs28940573 |
| Map | rs28940573 |
| PheGenI | rs28940573 |
| Biobank | rs28940573 |
| 1000 genomes | rs28940573 |
| hgdp | rs28940573 |
| ensembl | rs28940573 |
| geneview | rs28940573 |
| scholar | rs28940573 |
| rs28940573 | |
| pharmgkb | rs28940573 |
| gwascentral | rs28940573 |
| openSNP | rs28940573 |
| 23andMe | rs28940573 |
| SNPshot | rs28940573 |
| SNPdbe | rs28940573 |
| MSV3d | rs28940573 |
| GWAS Ctlg | rs28940573 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28940573(T;T) |
| Alt | rs28940573(T;T) |
| Reference | Rs28940573(C;C) |
| Significance | Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 2 |
| Variation | info |
| Gene | TPP1 |
| CLNDBN | Ceroid lipofuscinosis neuronal 2 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.6638277G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000002765.6, |
[PMID 10665500] Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
[PMID 12698559] [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].
