rs281865116
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (D;D) | 0 | common genotype |
| Make rs281865116(-;-) |
| Make rs281865116(-;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 45179744 |
| Gene | BLOC1S3, TRAPPC6A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281865116 |
| dbSNP (classic) | rs281865116 |
| ClinGen | rs281865116 |
| ebi | rs281865116 |
| HLI | rs281865116 |
| Exac | rs281865116 |
| Gnomad | rs281865116 |
| Varsome | rs281865116 |
| LitVar | rs281865116 |
| Map | rs281865116 |
| PheGenI | rs281865116 |
| Biobank | rs281865116 |
| 1000 genomes | rs281865116 |
| hgdp | rs281865116 |
| ensembl | rs281865116 |
| geneview | rs281865116 |
| scholar | rs281865116 |
| rs281865116 | |
| pharmgkb | rs281865116 |
| gwascentral | rs281865116 |
| openSNP | rs281865116 |
| 23andMe | rs281865116 |
| SNPshot | rs281865116 |
| SNPdbe | rs281865116 |
| MSV3d | rs281865116 |
| GWAS Ctlg | rs281865116 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281865116(-;-) |
| Alt | rs281865116(-;-) |
| Reference | Rs281865116(C;C) |
| Significance | Pathogenic |
| Disease | Hermansky-Pudlak syndrome 8 |
| Variation | info |
| Gene | BLOC1S3 TRAPPC6A |
| CLNDBN | Hermansky-Pudlak syndrome 8 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.45683002delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001554.1, |
