rs756469140
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;TTCA) | 5 | Hereditary leiomyomatosis and renal cell cancer |
| (TTCA;TTCA) | 0 | common in clinvar |
| Make rs756469140(-;-) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 241504064 |
| Gene | FH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs756469140 |
| dbSNP (classic) | rs756469140 |
| ClinGen | rs756469140 |
| ebi | rs756469140 |
| HLI | rs756469140 |
| Exac | rs756469140 |
| Gnomad | rs756469140 |
| Varsome | rs756469140 |
| LitVar | rs756469140 |
| Map | rs756469140 |
| PheGenI | rs756469140 |
| Biobank | rs756469140 |
| 1000 genomes | rs756469140 |
| hgdp | rs756469140 |
| ensembl | rs756469140 |
| geneview | rs756469140 |
| scholar | rs756469140 |
| rs756469140 | |
| pharmgkb | rs756469140 |
| gwascentral | rs756469140 |
| openSNP | rs756469140 |
| 23andMe | rs756469140 |
| SNPshot | rs756469140 |
| SNPdbe | rs756469140 |
| MSV3d | rs756469140 |
| GWAS Ctlg | rs756469140 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs756469140(-;-) |
| Alt | rs756469140(-;-) |
| Reference | Rs756469140(TTCA;TTCA) |
| 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 | 0 |
| HGVS | NC_000001.10:g.241667364_241667367delTTCA |
| CLNSRC | |
| CLNACC | RCV000196197.2, RCV000445586.1, RCV000470614.1, RCV000493004.1, |
