rs202189057
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs202189057(A;T) |
| Make rs202189057(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 6617695 |
| Gene | TPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202189057 |
| dbSNP (classic) | rs202189057 |
| ClinGen | rs202189057 |
| ebi | rs202189057 |
| HLI | rs202189057 |
| Exac | rs202189057 |
| Gnomad | rs202189057 |
| Varsome | rs202189057 |
| LitVar | rs202189057 |
| Map | rs202189057 |
| PheGenI | rs202189057 |
| Biobank | rs202189057 |
| 1000 genomes | rs202189057 |
| hgdp | rs202189057 |
| ensembl | rs202189057 |
| geneview | rs202189057 |
| scholar | rs202189057 |
| rs202189057 | |
| pharmgkb | rs202189057 |
| gwascentral | rs202189057 |
| openSNP | rs202189057 |
| 23andMe | rs202189057 |
| SNPshot | rs202189057 |
| SNPdbe | rs202189057 |
| MSV3d | rs202189057 |
| GWAS Ctlg | rs202189057 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs202189057(T;T) |
| Alt | rs202189057(T;T) |
| Reference | Rs202189057(A;A) |
| Significance | Pathogenic |
| Disease | not provided Inborn genetic diseases |
| Variation | info |
| Gene | TPP1 |
| CLNDBN | not provided Inborn genetic diseases |
| Reversed | 0 |
| HGVS | NC_000011.9:g.6638926A>T |
| CLNSRC | |
| CLNACC | RCV000189751.1, RCV000210549.1, |
