rs35418374
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs35418374(C;T) |
| Make rs35418374(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 70600892 |
| Gene | PRF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35418374 |
| dbSNP (classic) | rs35418374 |
| ClinGen | rs35418374 |
| ebi | rs35418374 |
| HLI | rs35418374 |
| Exac | rs35418374 |
| Gnomad | rs35418374 |
| Varsome | rs35418374 |
| LitVar | rs35418374 |
| Map | rs35418374 |
| PheGenI | rs35418374 |
| Biobank | rs35418374 |
| 1000 genomes | rs35418374 |
| hgdp | rs35418374 |
| ensembl | rs35418374 |
| geneview | rs35418374 |
| scholar | rs35418374 |
| rs35418374 | |
| pharmgkb | rs35418374 |
| gwascentral | rs35418374 |
| openSNP | rs35418374 |
| 23andMe | rs35418374 |
| SNPshot | rs35418374 |
| SNPdbe | rs35418374 |
| MSV3d | rs35418374 |
| GWAS Ctlg | rs35418374 |
| GMAF | 0.02112 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35418374(T;T) |
| Alt | rs35418374(T;T) |
| Reference | Rs35418374(C;C) |
| Significance | Pathogenic |
| Disease | Aplastic anemia not specified Familial hemophagocytic lymphohistiocytosis not provided |
| Variation | info |
| Gene | PRF1 |
| CLNDBN | Aplastic anemia not specified Familial hemophagocytic lymphohistiocytosis not provided |
| Reversed | 0 |
| HGVS | NC_000010.10:g.72360648C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014723.23, RCV000242526.1, RCV000324231.1, RCV000425105.1, |
