rs28757184
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs28757184(C;T) |
| Make rs28757184(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 51222375 |
| Gene | CYP19A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28757184 |
| dbSNP (classic) | rs28757184 |
| ClinGen | rs28757184 |
| ebi | rs28757184 |
| HLI | rs28757184 |
| Exac | rs28757184 |
| Gnomad | rs28757184 |
| Varsome | rs28757184 |
| LitVar | rs28757184 |
| Map | rs28757184 |
| PheGenI | rs28757184 |
| Biobank | rs28757184 |
| 1000 genomes | rs28757184 |
| hgdp | rs28757184 |
| ensembl | rs28757184 |
| geneview | rs28757184 |
| scholar | rs28757184 |
| rs28757184 | |
| pharmgkb | rs28757184 |
| gwascentral | rs28757184 |
| openSNP | rs28757184 |
| 23andMe | rs28757184 |
| SNPshot | rs28757184 |
| SNPdbe | rs28757184 |
| MSV3d | rs28757184 |
| GWAS Ctlg | rs28757184 |
| GMAF | 0.02617 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19470632] In vitro kinetic properties of the Thr201Met variant of human aromatase gene CYP19A1: Functional responses to substrate and product inhibition and enzyme inhibitors
[PMID 18941913
] Coffee intake, variants in genes involved in caffeine metabolism, and the risk of epithelial ovarian cancer.
[PMID 19015200] Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.
[PMID 20144226] A polymorphism at the 3'-UTR region of the aromatase gene defines a subgroup of postmenopausal breast cancer patients with poor response to neoadjuvant letrozole.
| ClinVar | |
|---|---|
| Risk | rs28757184(T;T) |
| Alt | rs28757184(T;T) |
| Reference | Rs28757184(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Aromatase deficiency |
| Variation | info |
| Gene | CYP19A1 |
| CLNDBN | Aromatase deficiency |
| Reversed | 1 |
| HGVS | NC_000015.9:g.51514572G>A |
| CLNSRC | |
| CLNACC | RCV000293196.1, |
