rs553522118
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs553522118(A;A) |
| Make rs553522118(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 11 |
| Position | 6617338 |
| Gene | TPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs553522118 |
| dbSNP (classic) | rs553522118 |
| ClinGen | rs553522118 |
| ebi | rs553522118 |
| HLI | rs553522118 |
| Exac | rs553522118 |
| Gnomad | rs553522118 |
| Varsome | rs553522118 |
| LitVar | rs553522118 |
| Map | rs553522118 |
| PheGenI | rs553522118 |
| Biobank | rs553522118 |
| 1000 genomes | rs553522118 |
| hgdp | rs553522118 |
| ensembl | rs553522118 |
| geneview | rs553522118 |
| scholar | rs553522118 |
| rs553522118 | |
| pharmgkb | rs553522118 |
| gwascentral | rs553522118 |
| openSNP | rs553522118 |
| 23andMe | rs553522118 |
| SNPshot | rs553522118 |
| SNPdbe | rs553522118 |
| MSV3d | rs553522118 |
| GWAS Ctlg | rs553522118 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs553522118(A;A) rs553522118(T;T) |
| Alt | rs553522118(A;A) rs553522118(T;T) |
| Reference | Rs553522118(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Ceroid lipofuscinosis neuronal 2 |
| Variation | info |
| Gene | TPP1 |
| CLNDBN | Ceroid lipofuscinosis neuronal 2 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.6638569G>T |
| CLNSRC | Institute of Human Genetics |
| CLNACC | RCV000234824.1, |
