rs373905859
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs373905859(A;A) |
| Make rs373905859(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 8231427 |
| Gene | CTC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373905859 |
| dbSNP (classic) | rs373905859 |
| ClinGen | rs373905859 |
| ebi | rs373905859 |
| HLI | rs373905859 |
| Exac | rs373905859 |
| Gnomad | rs373905859 |
| Varsome | rs373905859 |
| LitVar | rs373905859 |
| Map | rs373905859 |
| PheGenI | rs373905859 |
| Biobank | rs373905859 |
| 1000 genomes | rs373905859 |
| hgdp | rs373905859 |
| ensembl | rs373905859 |
| geneview | rs373905859 |
| scholar | rs373905859 |
| rs373905859 | |
| pharmgkb | rs373905859 |
| gwascentral | rs373905859 |
| openSNP | rs373905859 |
| 23andMe | rs373905859 |
| SNPshot | rs373905859 |
| SNPdbe | rs373905859 |
| MSV3d | rs373905859 |
| GWAS Ctlg | rs373905859 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373905859(A;A) |
| Alt | rs373905859(A;A) |
| Reference | Rs373905859(G;G) |
| 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.8134745G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023990.4, |
