rs61736587
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation |
| (G;G) | 0 | common in clinvar |
| Make rs61736587(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 7647436 |
| Gene | STXBP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61736587 |
| dbSNP (classic) | rs61736587 |
| ClinGen | rs61736587 |
| ebi | rs61736587 |
| HLI | rs61736587 |
| Exac | rs61736587 |
| Gnomad | rs61736587 |
| Varsome | rs61736587 |
| LitVar | rs61736587 |
| Map | rs61736587 |
| PheGenI | rs61736587 |
| Biobank | rs61736587 |
| 1000 genomes | rs61736587 |
| hgdp | rs61736587 |
| ensembl | rs61736587 |
| geneview | rs61736587 |
| scholar | rs61736587 |
| rs61736587 | |
| pharmgkb | rs61736587 |
| gwascentral | rs61736587 |
| openSNP | rs61736587 |
| 23andMe | rs61736587 |
| SNPshot | rs61736587 |
| SNPdbe | rs61736587 |
| MSV3d | rs61736587 |
| GWAS Ctlg | rs61736587 |
| Max Magnitude | 3 |
aka c.1621G>A (p.Gly541Ser)
considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar
| ClinVar | |
|---|---|
| Risk | rs61736587(A;A) |
| Alt | rs61736587(A;A) |
| Reference | Rs61736587(G;G) |
| Significance | Pathogenic |
| Disease | Hemophagocytic lymphohistiocytosis |
| Variation | info |
| Gene | STXBP2 |
| CLNDBN | Hemophagocytic lymphohistiocytosis, familial, 5 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.7712322G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000024317.2, |
