rs202020396
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation |
| (G;G) | 0 | common/normal |
| Make rs202020396(A;A) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 17 |
| Position | 75840100 |
| Gene | UNC13D |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202020396 |
| dbSNP (classic) | rs202020396 |
| ClinGen | rs202020396 |
| ebi | rs202020396 |
| HLI | rs202020396 |
| Exac | rs202020396 |
| Gnomad | rs202020396 |
| Varsome | rs202020396 |
| LitVar | rs202020396 |
| Map | rs202020396 |
| PheGenI | rs202020396 |
| Biobank | rs202020396 |
| 1000 genomes | rs202020396 |
| hgdp | rs202020396 |
| ensembl | rs202020396 |
| geneview | rs202020396 |
| scholar | rs202020396 |
| rs202020396 | |
| pharmgkb | rs202020396 |
| gwascentral | rs202020396 |
| openSNP | rs202020396 |
| 23andMe | rs202020396 |
| SNPshot | rs202020396 |
| SNPdbe | rs202020396 |
| MSV3d | rs202020396 |
| GWAS Ctlg | rs202020396 |
| Max Magnitude | 3 |
aka c.869C>A (p.Ser290Ter)
considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar
