rs17685
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs17685(C;T) |
| Make rs17685(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 75986787 |
| Gene | POR, TMEM120A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17685 |
| dbSNP (classic) | rs17685 |
| ClinGen | rs17685 |
| ebi | rs17685 |
| HLI | rs17685 |
| Exac | rs17685 |
| Gnomad | rs17685 |
| Varsome | rs17685 |
| LitVar | rs17685 |
| Map | rs17685 |
| PheGenI | rs17685 |
| Biobank | rs17685 |
| 1000 genomes | rs17685 |
| hgdp | rs17685 |
| ensembl | rs17685 |
| geneview | rs17685 |
| scholar | rs17685 |
| rs17685 | |
| pharmgkb | rs17685 |
| gwascentral | rs17685 |
| openSNP | rs17685 |
| 23andMe | rs17685 |
| SNPshot | rs17685 |
| SNPdbe | rs17685 |
| MSV3d | rs17685 |
| GWAS Ctlg | rs17685 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 25288136
] Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
[PMID 27660057] Associations of cytochrome P450 oxidoreductase genetic polymorphisms with smoking cessation in a Chinese population.
| ClinVar | |
|---|---|
| Risk | rs17685(T;T) |
| Alt | rs17685(T;T) |
| Reference | Rs17685(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| Variation | info |
| Gene | POR TMEM120A |
| CLNDBN | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| Reversed | 1 |
| HGVS | NC_000007.13:g.75616105G>A |
| CLNSRC | |
| CLNACC | RCV000299302.1, |
