rs3914132
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | Lower otosclerosis risk |
| (C;T) | 2 | Lower otosclerosis risk |
| (T;T) | 1 | Normal (not lower) otosclerosis risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 103886922 |
| Gene | RELN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3914132 |
| dbSNP (classic) | rs3914132 |
| ClinGen | rs3914132 |
| ebi | rs3914132 |
| HLI | rs3914132 |
| Exac | rs3914132 |
| Gnomad | rs3914132 |
| Varsome | rs3914132 |
| LitVar | rs3914132 |
| Map | rs3914132 |
| PheGenI | rs3914132 |
| Biobank | rs3914132 |
| 1000 genomes | rs3914132 |
| hgdp | rs3914132 |
| ensembl | rs3914132 |
| geneview | rs3914132 |
| scholar | rs3914132 |
| rs3914132 | |
| pharmgkb | rs3914132 |
| gwascentral | rs3914132 |
| openSNP | rs3914132 |
| 23andMe | rs3914132 |
| SNPshot | rs3914132 |
| SNPdbe | rs3914132 |
| MSV3d | rs3914132 |
| GWAS Ctlg | rs3914132 |
| GMAF | 0.1823 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 19230858 ]
|
| Trait | Otosclerosis |
| Title | A Genome-wide Analysis Identifies Genetic Variants in the RELN Gene Associated with Otosclerosis |
| Risk Allele | |
| P-val | 2E-8 |
| Odds Ratio | 1.54 [1.32-1.79] |
Each C allele at rs3914132 decreases the likelihood of developing otosclerosis, which can cause hearing loss.
[PMID 20642811] Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia
