rs199473682
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199473682(C;T) |
| Make rs199473682(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 8228251 |
| Gene | CTC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199473682 |
| dbSNP (classic) | rs199473682 |
| ClinGen | rs199473682 |
| ebi | rs199473682 |
| HLI | rs199473682 |
| Exac | rs199473682 |
| Gnomad | rs199473682 |
| Varsome | rs199473682 |
| LitVar | rs199473682 |
| Map | rs199473682 |
| PheGenI | rs199473682 |
| Biobank | rs199473682 |
| 1000 genomes | rs199473682 |
| hgdp | rs199473682 |
| ensembl | rs199473682 |
| geneview | rs199473682 |
| scholar | rs199473682 |
| rs199473682 | |
| pharmgkb | rs199473682 |
| gwascentral | rs199473682 |
| openSNP | rs199473682 |
| 23andMe | rs199473682 |
| SNPshot | rs199473682 |
| SNPdbe | rs199473682 |
| MSV3d | rs199473682 |
| GWAS Ctlg | rs199473682 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199473682(T;T) |
| Alt | rs199473682(T;T) |
| Reference | Rs199473682(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 | 1 |
| HGVS | NC_000017.10:g.8131569G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023994.5, |
[PMID 22387016
] Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
