rs779707997
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs779707997(C;C) |
| Make rs779707997(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 241511968 |
| Gene | FH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs779707997 |
| dbSNP (classic) | rs779707997 |
| ClinGen | rs779707997 |
| ebi | rs779707997 |
| HLI | rs779707997 |
| Exac | rs779707997 |
| Gnomad | rs779707997 |
| Varsome | rs779707997 |
| LitVar | rs779707997 |
| Map | rs779707997 |
| PheGenI | rs779707997 |
| Biobank | rs779707997 |
| 1000 genomes | rs779707997 |
| hgdp | rs779707997 |
| ensembl | rs779707997 |
| geneview | rs779707997 |
| scholar | rs779707997 |
| rs779707997 | |
| pharmgkb | rs779707997 |
| gwascentral | rs779707997 |
| openSNP | rs779707997 |
| 23andMe | rs779707997 |
| SNPshot | rs779707997 |
| SNPdbe | rs779707997 |
| MSV3d | rs779707997 |
| GWAS Ctlg | rs779707997 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs779707997(C;C) |
| Alt | rs779707997(C;C) |
| Reference | Rs779707997(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | FH |
| CLNDBN | not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.241675268T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000196456.2, RCV000445603.1, RCV000494490.1, |
