rs780495441
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs780495441(C;T) |
| Make rs780495441(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 189066461 |
| Gene | COL5A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs780495441 |
| dbSNP (classic) | rs780495441 |
| ClinGen | rs780495441 |
| ebi | rs780495441 |
| HLI | rs780495441 |
| Exac | rs780495441 |
| Gnomad | rs780495441 |
| Varsome | rs780495441 |
| LitVar | rs780495441 |
| Map | rs780495441 |
| PheGenI | rs780495441 |
| Biobank | rs780495441 |
| 1000 genomes | rs780495441 |
| hgdp | rs780495441 |
| ensembl | rs780495441 |
| geneview | rs780495441 |
| scholar | rs780495441 |
| rs780495441 | |
| pharmgkb | rs780495441 |
| gwascentral | rs780495441 |
| openSNP | rs780495441 |
| 23andMe | rs780495441 |
| SNPshot | rs780495441 |
| SNPdbe | rs780495441 |
| MSV3d | rs780495441 |
| GWAS Ctlg | rs780495441 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs780495441(T;T) |
| Alt | rs780495441(T;T) |
| Reference | Rs780495441(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | COL5A2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.189931187C>T |
| CLNSRC | |
| CLNACC | RCV000198000.1, |
