rs398123163
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;A) | 5 | Hereditary leiomyomatosis and renal cell cancer |
| (A;A) | 0 | common in clinvar |
| Make rs398123163(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 241500534 |
| Gene | FH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123163 |
| dbSNP (classic) | rs398123163 |
| ClinGen | rs398123163 |
| ebi | rs398123163 |
| HLI | rs398123163 |
| Exac | rs398123163 |
| Gnomad | rs398123163 |
| Varsome | rs398123163 |
| LitVar | rs398123163 |
| Map | rs398123163 |
| PheGenI | rs398123163 |
| Biobank | rs398123163 |
| 1000 genomes | rs398123163 |
| hgdp | rs398123163 |
| ensembl | rs398123163 |
| geneview | rs398123163 |
| scholar | rs398123163 |
| rs398123163 | |
| pharmgkb | rs398123163 |
| gwascentral | rs398123163 |
| openSNP | rs398123163 |
| 23andMe | rs398123163 |
| SNPshot | rs398123163 |
| SNPdbe | rs398123163 |
| MSV3d | rs398123163 |
| GWAS Ctlg | rs398123163 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs398123163(-;-) |
| Alt | rs398123163(-;-) |
| Reference | Rs398123163(A;A) |
| Significance | Pathogenic |
| Disease | not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | FH |
| CLNDBN | not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000001.10:g.241663834delT |
| CLNSRC | HGMD |
| CLNACC | RCV000078145.6, RCV000445588.1, RCV000461548.1, RCV000493624.1, |
