rs564375308
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs564375308(C;T) |
| Make rs564375308(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 134806229 |
| Gene | COL5A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs564375308 |
| dbSNP (classic) | rs564375308 |
| ClinGen | rs564375308 |
| ebi | rs564375308 |
| HLI | rs564375308 |
| Exac | rs564375308 |
| Gnomad | rs564375308 |
| Varsome | rs564375308 |
| LitVar | rs564375308 |
| Map | rs564375308 |
| PheGenI | rs564375308 |
| Biobank | rs564375308 |
| 1000 genomes | rs564375308 |
| hgdp | rs564375308 |
| ensembl | rs564375308 |
| geneview | rs564375308 |
| scholar | rs564375308 |
| rs564375308 | |
| pharmgkb | rs564375308 |
| gwascentral | rs564375308 |
| openSNP | rs564375308 |
| 23andMe | rs564375308 |
| SNPshot | rs564375308 |
| SNPdbe | rs564375308 |
| MSV3d | rs564375308 |
| GWAS Ctlg | rs564375308 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs564375308(T;T) |
| Alt | rs564375308(T;T) |
| Reference | Rs564375308(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | COL5A1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.137698075C>T |
| CLNSRC | |
| CLNACC | RCV000200766.1, |
