rs750273092
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 5 | Hereditary leiomyomatosis and renal cell cancer |
| (T;T) | 0 | common in clinvar |
| Make rs750273092(A;A) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 241508787 |
| Gene | FH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs750273092 |
| dbSNP (classic) | rs750273092 |
| ClinGen | rs750273092 |
| ebi | rs750273092 |
| HLI | rs750273092 |
| Exac | rs750273092 |
| Gnomad | rs750273092 |
| Varsome | rs750273092 |
| LitVar | rs750273092 |
| Map | rs750273092 |
| PheGenI | rs750273092 |
| Biobank | rs750273092 |
| 1000 genomes | rs750273092 |
| hgdp | rs750273092 |
| ensembl | rs750273092 |
| geneview | rs750273092 |
| scholar | rs750273092 |
| rs750273092 | |
| pharmgkb | rs750273092 |
| gwascentral | rs750273092 |
| openSNP | rs750273092 |
| 23andMe | rs750273092 |
| SNPshot | rs750273092 |
| SNPdbe | rs750273092 |
| MSV3d | rs750273092 |
| GWAS Ctlg | rs750273092 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs750273092(A;A) |
| Alt | rs750273092(A;A) |
| Reference | Rs750273092(T;T) |
| Significance | Pathogenic |
| Disease | Hereditary leiomyomatosis and renal cell cancer |
| Variation | info |
| Gene | FH |
| CLNDBN | Hereditary leiomyomatosis and renal cell cancer |
| Reversed | 0 |
| HGVS | NC_000001.10:g.241672087T>A |
| CLNSRC | |
| CLNACC | RCV000445615.1, |
