{{Rsnum
|rsid=3914132
|Gene=RELN
|Chromosome=7
|position=103886922
|Orientation=plus
|GMAF=0.1823
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=RELN
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 6.2 | 25.7 | 68.1
| HCB | 2.2 | 11.0 | 86.8
| JPT | 2.7 | 15.3 | 82.0
| YRI | 4.8 | 36.6 | 58.6
| ASW | 3.6 | 30.4 | 66.1
| CHB | 2.2 | 11.0 | 86.8
| CHD | 0.0 | 24.1 | 75.9
| GIH | 7.0 | 30.0 | 63.0
| LWK | 3.7 | 32.1 | 64.2
| MEX | 5.2 | 36.2 | 58.6
| MKK | 3.9 | 30.3 | 65.8
| TSI | 2.0 | 38.6 | 59.4
| HapMapRevision=28
}}
{{PMID Auto GWAS
|PMID=19230858
|Trait=Otosclerosis
|Title=A Genome-wide Analysis Identifies Genetic Variants in the RELN Gene Associated with Otosclerosis
|RiskAllele=
|Pval=2E-8
|OR=1.54
|ORtxt=[1.32-1.79]
|OA=1
}}

Each C allele at [[rs3914132]] decreases the likelihood of developing [[otosclerosis]], which can cause hearing loss.

{{omim
|desc=OTOSCLEROSIS; OTSC1
|id=166800
|rsnum=3914132
}}

{{PharmGKB
|RSID=rs3914132
|Name_s=
|Gene_s=RELN
|Feature=
|Evidence=PubMed ID:19230858
|Annotation=In a GWAS done in Belgian-Dutch cases and controls (694 of each, split into a discovery and a replication set) and then in a second replication set of 455 French cases and 480 controls, rs3914132 was found to be associated with otosclerosis.
|Drugs=
|Drug Classes=
|Diseases=Otosclerosis
|Curation Level=Curated
|PharmGKB Accession ID=PA164857082
}}

{{PMID Auto
|PMID=20642811
|Title=Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia
}}

{{PharmGKB
|RSID=rs3914132
|Name_s=
|Gene_s=RELN
|Feature=
|Evidence=PubMed ID:19230858
|Annotation=This variant in the RELN gene was highly associated with otosclerosis in a GWAS in 302 case and 302 controls.
|Drugs=
|Drug Classes=
|Diseases=Otosclerosis
|Curation Level=Curated
|PharmGKB Accession ID=PA163522158
}}

{{PharmGKB
|RSID=rs3914132
|Name_s=
|Gene_s=RELN
|Feature=
|Evidence=PubMed ID:19230858; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: A Genome-wide Analysis Identifies Genetic Variants in the RELN Gene Associated with Otosclerosis. (Initial Sample Size: 302 cases, 302 controls; Replication Sample Size: 847 cases, 872 controls); (Region: 7q22.1; Reported Gene(s): RELN; Risk Allele: rs3914132-?); (p-value= 0.00000002).This variant is associated with Otosclerosis.
|Drugs=
|Drug Classes=
|Diseases=Otosclerosis
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739953
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3914132
|overall_frequency_n=108
|overall_frequency_d=128
|overall_frequency=0.84375
|n_genomes=55
|n_genomes_annotated=0
|n_haplomes=92
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}