rs104894497
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 5 | Hemophagocytic Lymphohistiocytosis (possible; see discussion) |
| (G;G) | 0 | common in clinvar |
| Make rs104894497(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 55228693 |
| Gene | RAB27A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894497 |
| dbSNP (classic) | rs104894497 |
| ClinGen | rs104894497 |
| ebi | rs104894497 |
| HLI | rs104894497 |
| Exac | rs104894497 |
| Gnomad | rs104894497 |
| Varsome | rs104894497 |
| LitVar | rs104894497 |
| Map | rs104894497 |
| PheGenI | rs104894497 |
| Biobank | rs104894497 |
| 1000 genomes | rs104894497 |
| hgdp | rs104894497 |
| ensembl | rs104894497 |
| geneview | rs104894497 |
| scholar | rs104894497 |
| rs104894497 | |
| pharmgkb | rs104894497 |
| gwascentral | rs104894497 |
| openSNP | rs104894497 |
| 23andMe | rs104894497 |
| SNPshot | rs104894497 |
| SNPdbe | rs104894497 |
| MSV3d | rs104894497 |
| GWAS Ctlg | rs104894497 |
| Max Magnitude | 5 |
aka c.259G>C (p.Ala87Pro)
Reported in ClinVar as potentially pathogenic for Griscelli syndrome, while a 2016 publication finds heterozygotes associated with familial hemophagocytic lymphohistiocytosis.[PMID 26880764
]
23andMe name: i5003825
| ClinVar | |
|---|---|
| Risk | rs104894497(A;A) rs104894497(C;C) |
| Alt | rs104894497(A;A) rs104894497(C;C) |
| Reference | Rs104894497(G;G) |
| Significance | Pathogenic |
| Disease | Griscelli syndrome type 2 not specified |
| Variation | info |
| Gene | RAB27A |
| CLNDBN | Griscelli syndrome type 2 not specified |
| Reversed | 1 |
| HGVS | NC_000015.9:g.55520891C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006357.2, RCV000169674.1, |
