rs369053765
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs369053765(A;A) |
| Make rs369053765(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 26464498 |
| Gene | HPS4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs369053765 |
| dbSNP (classic) | rs369053765 |
| ClinGen | rs369053765 |
| ebi | rs369053765 |
| HLI | rs369053765 |
| Exac | rs369053765 |
| Gnomad | rs369053765 |
| Varsome | rs369053765 |
| LitVar | rs369053765 |
| Map | rs369053765 |
| PheGenI | rs369053765 |
| Biobank | rs369053765 |
| 1000 genomes | rs369053765 |
| hgdp | rs369053765 |
| ensembl | rs369053765 |
| geneview | rs369053765 |
| scholar | rs369053765 |
| rs369053765 | |
| pharmgkb | rs369053765 |
| gwascentral | rs369053765 |
| openSNP | rs369053765 |
| 23andMe | rs369053765 |
| SNPshot | rs369053765 |
| SNPdbe | rs369053765 |
| MSV3d | rs369053765 |
| GWAS Ctlg | rs369053765 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs369053765(A;A) rs369053765(C;C) |
| Alt | rs369053765(A;A) rs369053765(C;C) |
| Reference | Rs369053765(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Hermansky-Pudlak syndrome |
| Variation | info |
| Gene | HPS4 |
| CLNDBN | Hermansky-Pudlak syndrome |
| Reversed | 0 |
| HGVS | NC_000022.10:g.26860464G>A |
| CLNSRC | |
| CLNACC | RCV000214159.1, |
