rs200004220
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs200004220(A;G) |
| Make rs200004220(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 241500572 |
| Gene | FH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200004220 |
| dbSNP (classic) | rs200004220 |
| ClinGen | rs200004220 |
| ebi | rs200004220 |
| HLI | rs200004220 |
| Exac | rs200004220 |
| Gnomad | rs200004220 |
| Varsome | rs200004220 |
| LitVar | rs200004220 |
| Map | rs200004220 |
| PheGenI | rs200004220 |
| Biobank | rs200004220 |
| 1000 genomes | rs200004220 |
| hgdp | rs200004220 |
| ensembl | rs200004220 |
| geneview | rs200004220 |
| scholar | rs200004220 |
| rs200004220 | |
| pharmgkb | rs200004220 |
| gwascentral | rs200004220 |
| openSNP | rs200004220 |
| 23andMe | rs200004220 |
| SNPshot | rs200004220 |
| SNPdbe | rs200004220 |
| MSV3d | rs200004220 |
| GWAS Ctlg | rs200004220 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200004220(G;G) |
| Alt | rs200004220(G;G) |
| Reference | Rs200004220(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 | 0 |
| HGVS | NC_000001.10:g.241663872A>G |
| CLNSRC | HGMD |
| CLNACC | RCV000078144.6, RCV000445624.1, RCV000461249.1, RCV000492881.1, |
