rs369255297
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs369255297(C;T) |
| Make rs369255297(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 8231334 |
| Gene | CTC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs369255297 |
| dbSNP (classic) | rs369255297 |
| ClinGen | rs369255297 |
| ebi | rs369255297 |
| HLI | rs369255297 |
| Exac | rs369255297 |
| Gnomad | rs369255297 |
| Varsome | rs369255297 |
| LitVar | rs369255297 |
| Map | rs369255297 |
| PheGenI | rs369255297 |
| Biobank | rs369255297 |
| 1000 genomes | rs369255297 |
| hgdp | rs369255297 |
| ensembl | rs369255297 |
| geneview | rs369255297 |
| scholar | rs369255297 |
| rs369255297 | |
| pharmgkb | rs369255297 |
| gwascentral | rs369255297 |
| openSNP | rs369255297 |
| 23andMe | rs369255297 |
| SNPshot | rs369255297 |
| SNPdbe | rs369255297 |
| MSV3d | rs369255297 |
| GWAS Ctlg | rs369255297 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs369255297(T;T) |
| Alt | rs369255297(T;T) |
| Reference | Rs369255297(C;C) |
| Significance | Pathogenic |
| Disease | Cerebroretinal microangiopathy with calcifications and cysts 1 |
| Variation | info |
| Gene | CTC1 |
| CLNDBN | Cerebroretinal microangiopathy with calcifications and cysts 1 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.8134652C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023988.4, |
