rs2070080
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2070080(C;T) |
| Make rs2070080(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 241500525 |
| Gene | FH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2070080 |
| dbSNP (classic) | rs2070080 |
| ClinGen | rs2070080 |
| ebi | rs2070080 |
| HLI | rs2070080 |
| Exac | rs2070080 |
| Gnomad | rs2070080 |
| Varsome | rs2070080 |
| LitVar | rs2070080 |
| Map | rs2070080 |
| PheGenI | rs2070080 |
| Biobank | rs2070080 |
| 1000 genomes | rs2070080 |
| hgdp | rs2070080 |
| ensembl | rs2070080 |
| geneview | rs2070080 |
| scholar | rs2070080 |
| rs2070080 | |
| pharmgkb | rs2070080 |
| gwascentral | rs2070080 |
| openSNP | rs2070080 |
| 23andMe | rs2070080 |
| SNPshot | rs2070080 |
| SNPdbe | rs2070080 |
| MSV3d | rs2070080 |
| GWAS Ctlg | rs2070080 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs2070080(A;A) rs2070080(T;T) |
| Alt | rs2070080(A;A) rs2070080(T;T) |
| Reference | Rs2070080(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not specified Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Multiple Cutaneous and Uterine Leiomyomas not provided |
| Variation | info |
| Gene | FH |
| CLNDBN | not specified Hereditary cancer-predisposing syndrome Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Multiple Cutaneous and Uterine Leiomyomas not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.241663825G>A; NC_000001.10:g.241663825G>T |
| CLNSRC | |
| CLNACC | RCV000125104.1, RCV000163275.1, RCV000292482.1, RCV000338010.1, RCV000386787.1, RCV000413968.1, |
