rs147700538
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs147700538(G;G) |
| Make rs147700538(G;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 244842234 |
| Gene | COX20, HNRNPU |
| is a | snp |
| is | mentioned by |
| dbSNP | rs147700538 |
| dbSNP (classic) | rs147700538 |
| ClinGen | rs147700538 |
| ebi | rs147700538 |
| HLI | rs147700538 |
| Exac | rs147700538 |
| Gnomad | rs147700538 |
| Varsome | rs147700538 |
| LitVar | rs147700538 |
| Map | rs147700538 |
| PheGenI | rs147700538 |
| Biobank | rs147700538 |
| 1000 genomes | rs147700538 |
| hgdp | rs147700538 |
| ensembl | rs147700538 |
| geneview | rs147700538 |
| scholar | rs147700538 |
| rs147700538 | |
| pharmgkb | rs147700538 |
| gwascentral | rs147700538 |
| openSNP | rs147700538 |
| 23andMe | rs147700538 |
| SNPshot | rs147700538 |
| SNPdbe | rs147700538 |
| MSV3d | rs147700538 |
| GWAS Ctlg | rs147700538 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs147700538(G;G) |
| Alt | rs147700538(G;G) |
| Reference | Rs147700538(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | HNRNPU-AS1 COX20 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.245005536T>G |
| CLNSRC | |
| CLNACC | RCV000199851.1, |
