rs5030739
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 1.3 | Slight increase (1.3x) in risk for prostate cancer |
| (G;G) | 0 | common on affy axiom data |
| Make rs5030739(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 12996585 |
| Gene | ELAC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5030739 |
| dbSNP (classic) | rs5030739 |
| ClinGen | rs5030739 |
| ebi | rs5030739 |
| HLI | rs5030739 |
| Exac | rs5030739 |
| Gnomad | rs5030739 |
| Varsome | rs5030739 |
| LitVar | rs5030739 |
| Map | rs5030739 |
| PheGenI | rs5030739 |
| Biobank | rs5030739 |
| 1000 genomes | rs5030739 |
| hgdp | rs5030739 |
| ensembl | rs5030739 |
| geneview | rs5030739 |
| scholar | rs5030739 |
| rs5030739 | |
| pharmgkb | rs5030739 |
| gwascentral | rs5030739 |
| openSNP | rs5030739 |
| 23andMe | rs5030739 |
| SNPshot | rs5030739 |
| SNPdbe | rs5030739 |
| MSV3d | rs5030739 |
| GWAS Ctlg | rs5030739 |
| GMAF | 0.02433 |
| Max Magnitude | 1.3 |
| ClinVar | |
|---|---|
| Risk | rs5030739(A;A) |
| Alt | rs5030739(A;A) |
| Reference | Rs5030739(G;G) |
| Significance | Pathogenic |
| Disease | Prostate cancer not specified Combined oxidative phosphorylation deficiency 17 |
| Variation | info |
| Gene | ELAC2 |
| CLNDBN | Prostate cancer, hereditary, 2 not specified Combined oxidative phosphorylation deficiency 17 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.12899902C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005359.3, RCV000429965.1, RCV000477360.1, |
[PMID 18375959
] Sequence variants of elaC homolog 2 (Escherichia coli) (ELAC2) gene and susceptibility to prostate cancer in the Health Professionals Follow-Up Study.
