rs3178250
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | Lower otosclerosis risk |
| Make rs3178250(C;T) |
| Make rs3178250(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 6779554 |
| Gene | BMP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3178250 |
| dbSNP (classic) | rs3178250 |
| ClinGen | rs3178250 |
| ebi | rs3178250 |
| HLI | rs3178250 |
| Exac | rs3178250 |
| Gnomad | rs3178250 |
| Varsome | rs3178250 |
| LitVar | rs3178250 |
| Map | rs3178250 |
| PheGenI | rs3178250 |
| Biobank | rs3178250 |
| 1000 genomes | rs3178250 |
| hgdp | rs3178250 |
| ensembl | rs3178250 |
| geneview | rs3178250 |
| scholar | rs3178250 |
| rs3178250 | |
| pharmgkb | rs3178250 |
| gwascentral | rs3178250 |
| openSNP | rs3178250 |
| 23andMe | rs3178250 |
| SNPshot | rs3178250 |
| SNPdbe | rs3178250 |
| MSV3d | rs3178250 |
| GWAS Ctlg | rs3178250 |
| GMAF | 0.2631 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 18021008
] rs3178250(C;C)protected against otosclerosis (combined populations: p = 2.2 x 10(-4); OR = 2.027; 95% CI = 1.380-2.979
[PMID 17847004] Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.
