rs587782207
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs587782207(A;A) |
| Make rs587782207(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 241517241 |
| Gene | FH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587782207 |
| dbSNP (classic) | rs587782207 |
| ClinGen | rs587782207 |
| ebi | rs587782207 |
| HLI | rs587782207 |
| Exac | rs587782207 |
| Gnomad | rs587782207 |
| Varsome | rs587782207 |
| LitVar | rs587782207 |
| Map | rs587782207 |
| PheGenI | rs587782207 |
| Biobank | rs587782207 |
| 1000 genomes | rs587782207 |
| hgdp | rs587782207 |
| ensembl | rs587782207 |
| geneview | rs587782207 |
| scholar | rs587782207 |
| rs587782207 | |
| pharmgkb | rs587782207 |
| gwascentral | rs587782207 |
| openSNP | rs587782207 |
| 23andMe | rs587782207 |
| SNPshot | rs587782207 |
| SNPdbe | rs587782207 |
| MSV3d | rs587782207 |
| GWAS Ctlg | rs587782207 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587782207(A;A) |
| Alt | rs587782207(A;A) |
| Reference | Rs587782207(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome not provided Fumarase deficiency |
| Variation | info |
| Gene | FH |
| CLNDBN | Hereditary cancer-predisposing syndrome not provided Fumarase deficiency |
| Reversed | 1 |
| HGVS | NC_000001.10:g.241680541C>T |
| CLNSRC | |
| CLNACC | RCV000130874.2, RCV000200494.2, RCV000462728.1, |
