rs786205093
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 3 | Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation |
| (C;C) | 0 | common in clinvar |
| Make rs786205093(-;-) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 10 |
| Position | 70600696 |
| Gene | PRF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786205093 |
| dbSNP (classic) | rs786205093 |
| ClinGen | rs786205093 |
| ebi | rs786205093 |
| HLI | rs786205093 |
| Exac | rs786205093 |
| Gnomad | rs786205093 |
| Varsome | rs786205093 |
| LitVar | rs786205093 |
| Map | rs786205093 |
| PheGenI | rs786205093 |
| Biobank | rs786205093 |
| 1000 genomes | rs786205093 |
| hgdp | rs786205093 |
| ensembl | rs786205093 |
| geneview | rs786205093 |
| scholar | rs786205093 |
| rs786205093 | |
| pharmgkb | rs786205093 |
| gwascentral | rs786205093 |
| openSNP | rs786205093 |
| 23andMe | rs786205093 |
| SNPshot | rs786205093 |
| SNPdbe | rs786205093 |
| MSV3d | rs786205093 |
| GWAS Ctlg | rs786205093 |
| Max Magnitude | 3 |
c.207delC (p.Asp70Thrfs)
| ClinVar | |
|---|---|
| Risk | rs786205093(-;-) |
| Alt | rs786205093(-;-) |
| Reference | Rs786205093(C;C) |
| Significance | Pathogenic |
| Disease | Hemophagocytic lymphohistiocytosis |
| Variation | info |
| Gene | PRF1 |
| CLNDBN | Hemophagocytic lymphohistiocytosis, familial, 2 |
| Reversed | 1 |
| HGVS | NC_000010.10:g.72360452delG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014725.24, |
