rs121913123
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Associated with leiomyomatosis and possibly renal cell cancer |
| (G;G) | 0 | common in clinvar |
| (G;T) | 5 | Associated with leiomyomatosis and possibly renal cell cancer |
| Make rs121913123(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 241508643 |
| Gene | FH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913123 |
| dbSNP (classic) | rs121913123 |
| ClinGen | rs121913123 |
| ebi | rs121913123 |
| HLI | rs121913123 |
| Exac | rs121913123 |
| Gnomad | rs121913123 |
| Varsome | rs121913123 |
| LitVar | rs121913123 |
| Map | rs121913123 |
| PheGenI | rs121913123 |
| Biobank | rs121913123 |
| 1000 genomes | rs121913123 |
| hgdp | rs121913123 |
| ensembl | rs121913123 |
| geneview | rs121913123 |
| scholar | rs121913123 |
| rs121913123 | |
| pharmgkb | rs121913123 |
| gwascentral | rs121913123 |
| openSNP | rs121913123 |
| 23andMe | rs121913123 |
| SNPshot | rs121913123 |
| SNPdbe | rs121913123 |
| MSV3d | rs121913123 |
| GWAS Ctlg | rs121913123 |
| Merged from | Rs121913124, Rs28933069 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs121913123(A;A) rs121913123(T;T) |
| Alt | rs121913123(A;A) rs121913123(T;T) |
| Reference | Rs121913123(G;G) |
| Significance | Other |
| Disease | Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency not provided Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | FH |
| CLNDBN | Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency not provided Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000001.10:g.241671943C>A; NC_000001.10:g.241671943C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017624.29, RCV000017623.24, RCV000178717.4, RCV000196988.3, RCV000493379.1, |
