rs201395553
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs201395553(A;A) |
| Make rs201395553(A;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 241506015 |
| Gene | FH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201395553 |
| dbSNP (classic) | rs201395553 |
| ClinGen | rs201395553 |
| ebi | rs201395553 |
| HLI | rs201395553 |
| Exac | rs201395553 |
| Gnomad | rs201395553 |
| Varsome | rs201395553 |
| LitVar | rs201395553 |
| Map | rs201395553 |
| PheGenI | rs201395553 |
| Biobank | rs201395553 |
| 1000 genomes | rs201395553 |
| hgdp | rs201395553 |
| ensembl | rs201395553 |
| geneview | rs201395553 |
| scholar | rs201395553 |
| rs201395553 | |
| pharmgkb | rs201395553 |
| gwascentral | rs201395553 |
| openSNP | rs201395553 |
| 23andMe | rs201395553 |
| SNPshot | rs201395553 |
| SNPdbe | rs201395553 |
| MSV3d | rs201395553 |
| GWAS Ctlg | rs201395553 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201395553(A;A) rs201395553(G;G) |
| Alt | rs201395553(A;A) rs201395553(G;G) |
| Reference | Rs201395553(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | FH |
| CLNDBN | not specified not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.241669315C>G |
| CLNSRC | |
| CLNACC | RCV000179258.1, RCV000442479.1, RCV000445630.1, RCV000493248.1, |
