rs767481076
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GCTTG;GCTTG) | 0 | common in clinvar |
| Make rs767481076(-;-) |
| Make rs767481076(-;GCTTG) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 55205655 |
| Gene | RAB27A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs767481076 |
| dbSNP (classic) | rs767481076 |
| ClinGen | rs767481076 |
| ebi | rs767481076 |
| HLI | rs767481076 |
| Exac | rs767481076 |
| Gnomad | rs767481076 |
| Varsome | rs767481076 |
| LitVar | rs767481076 |
| Map | rs767481076 |
| PheGenI | rs767481076 |
| Biobank | rs767481076 |
| 1000 genomes | rs767481076 |
| hgdp | rs767481076 |
| ensembl | rs767481076 |
| geneview | rs767481076 |
| scholar | rs767481076 |
| rs767481076 | |
| pharmgkb | rs767481076 |
| gwascentral | rs767481076 |
| openSNP | rs767481076 |
| 23andMe | rs767481076 |
| SNPshot | rs767481076 |
| SNPdbe | rs767481076 |
| MSV3d | rs767481076 |
| GWAS Ctlg | rs767481076 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs767481076(-;-) |
| Alt | rs767481076(-;-) |
| Reference | Rs767481076(GCTTG;GCTTG) |
| Significance | Probable-Pathogenic |
| Disease | Griscelli syndrome type 2 |
| Variation | info |
| Gene | RAB27A |
| CLNDBN | Griscelli syndrome type 2 |
| Reversed | 0 |
| HGVS | NC_000015.9:g.55497853_55497857delGCTTG |
| CLNSRC | |
| CLNACC | RCV000477784.1, |
