rs764446683
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs764446683(C;G) |
| Make rs764446683(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 134824793 |
| Gene | COL5A1, LOC101448202 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs764446683 |
| dbSNP (classic) | rs764446683 |
| ClinGen | rs764446683 |
| ebi | rs764446683 |
| HLI | rs764446683 |
| Exac | rs764446683 |
| Gnomad | rs764446683 |
| Varsome | rs764446683 |
| LitVar | rs764446683 |
| Map | rs764446683 |
| PheGenI | rs764446683 |
| Biobank | rs764446683 |
| 1000 genomes | rs764446683 |
| hgdp | rs764446683 |
| ensembl | rs764446683 |
| geneview | rs764446683 |
| scholar | rs764446683 |
| rs764446683 | |
| pharmgkb | rs764446683 |
| gwascentral | rs764446683 |
| openSNP | rs764446683 |
| 23andMe | rs764446683 |
| SNPshot | rs764446683 |
| SNPdbe | rs764446683 |
| MSV3d | rs764446683 |
| GWAS Ctlg | rs764446683 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs764446683(A;A) rs764446683(G;G) rs764446683(T;T) |
| Alt | rs764446683(A;A) rs764446683(G;G) rs764446683(T;T) |
| Reference | Rs764446683(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified not provided |
| Variation | info |
| Gene | COL5A1 |
| CLNDBN | not specified not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.137716639C>G; NC_000009.11:g.137716639C>T |
| CLNSRC | |
| CLNACC | RCV000196702.1, RCV000198222.1, |
