rs587776556
From SNPedia
| Merged into | rs397515517 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs587776556(-;-) |
| Make rs587776556(-;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 120674902 |
| Gene | HGD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776556 |
| dbSNP (classic) | rs587776556 |
| ClinGen | rs587776556 |
| ebi | rs587776556 |
| HLI | rs587776556 |
| Exac | rs587776556 |
| Gnomad | rs587776556 |
| Varsome | rs587776556 |
| LitVar | rs587776556 |
| Map | rs587776556 |
| PheGenI | rs587776556 |
| Biobank | rs587776556 |
| 1000 genomes | rs587776556 |
| hgdp | rs587776556 |
| ensembl | rs587776556 |
| geneview | rs587776556 |
| scholar | rs587776556 |
| rs587776556 | |
| pharmgkb | rs587776556 |
| gwascentral | rs587776556 |
| openSNP | rs587776556 |
| 23andMe | rs587776556 |
| SNPshot | rs587776556 |
| SNPdbe | rs587776556 |
| MSV3d | rs587776556 |
| GWAS Ctlg | rs587776556 |
| Status | Merged into rs397515517 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs587776556(T;T) |
| Significance | Pathogenic |
| Disease | Alkaptonuria |
| Variation | info |
| Gene | HGD |
| CLNDBN | Alkaptonuria |
| Reversed | 0 |
| HGVS | NC_000003.11:g.120393749delT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003321.5, |
