rs754621494
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation |
| (T;T) | 0 | common/normal |
| Make rs754621494(G;G) |
| Make rs754621494(G;T) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 17 |
| Position | 75835410 |
| Gene | UNC13D |
| is a | snp |
| is | mentioned by |
| dbSNP | rs754621494 |
| dbSNP (classic) | rs754621494 |
| ClinGen | rs754621494 |
| ebi | rs754621494 |
| HLI | rs754621494 |
| Exac | rs754621494 |
| Gnomad | rs754621494 |
| Varsome | rs754621494 |
| LitVar | rs754621494 |
| Map | rs754621494 |
| PheGenI | rs754621494 |
| Biobank | rs754621494 |
| 1000 genomes | rs754621494 |
| hgdp | rs754621494 |
| ensembl | rs754621494 |
| geneview | rs754621494 |
| scholar | rs754621494 |
| rs754621494 | |
| pharmgkb | rs754621494 |
| gwascentral | rs754621494 |
| openSNP | rs754621494 |
| 23andMe | rs754621494 |
| SNPshot | rs754621494 |
| SNPdbe | rs754621494 |
| MSV3d | rs754621494 |
| GWAS Ctlg | rs754621494 |
| Max Magnitude | 3 |
aka c.1847A>G (p.Glu616Gly)
considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar
