rs747946828
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs747946828(A;A) |
| Make rs747946828(A;C) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 189043231 |
| Gene | COL5A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs747946828 |
| dbSNP (classic) | rs747946828 |
| ClinGen | rs747946828 |
| ebi | rs747946828 |
| HLI | rs747946828 |
| Exac | rs747946828 |
| Gnomad | rs747946828 |
| Varsome | rs747946828 |
| LitVar | rs747946828 |
| Map | rs747946828 |
| PheGenI | rs747946828 |
| Biobank | rs747946828 |
| 1000 genomes | rs747946828 |
| hgdp | rs747946828 |
| ensembl | rs747946828 |
| geneview | rs747946828 |
| scholar | rs747946828 |
| rs747946828 | |
| pharmgkb | rs747946828 |
| gwascentral | rs747946828 |
| openSNP | rs747946828 |
| 23andMe | rs747946828 |
| SNPshot | rs747946828 |
| SNPdbe | rs747946828 |
| MSV3d | rs747946828 |
| GWAS Ctlg | rs747946828 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs747946828(A;A) rs747946828(T;T) |
| Alt | rs747946828(A;A) rs747946828(T;T) |
| Reference | Rs747946828(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | COL5A2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.189907957C>T |
| CLNSRC | |
| CLNACC | RCV000200482.1, |
