rs959968589
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 rs959968589(A;A) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 17 |
| Position | 75843827 |
| Gene | UNC13D |
| is a | snp |
| is | mentioned by |
| dbSNP | rs959968589 |
| dbSNP (classic) | rs959968589 |
| ClinGen | rs959968589 |
| ebi | rs959968589 |
| HLI | rs959968589 |
| Exac | rs959968589 |
| Gnomad | rs959968589 |
| Varsome | rs959968589 |
| LitVar | rs959968589 |
| Map | rs959968589 |
| PheGenI | rs959968589 |
| Biobank | rs959968589 |
| 1000 genomes | rs959968589 |
| hgdp | rs959968589 |
| ensembl | rs959968589 |
| geneview | rs959968589 |
| scholar | rs959968589 |
| rs959968589 | |
| pharmgkb | rs959968589 |
| gwascentral | rs959968589 |
| openSNP | rs959968589 |
| 23andMe | rs959968589 |
| SNPshot | rs959968589 |
| SNPdbe | rs959968589 |
| MSV3d | rs959968589 |
| GWAS Ctlg | rs959968589 |
| Max Magnitude | 3 |
aka c.118-308C>T
considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar
