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rs3914132

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 Lower otosclerosis risk
(C;T) 2 Lower otosclerosis risk
(T;T) 1 Normal (not lower) otosclerosis risk
ReferenceGRCh38 38.1/141
Chromosome7
Position103886922
GeneRELN
is asnp
is mentioned by
dbSNPrs3914132
ebirs3914132
HLIrs3914132
Exacrs3914132
Varsomers3914132
Maprs3914132
PheGenIrs3914132
hapmaprs3914132
1000 genomesrs3914132
hgdprs3914132
ensemblrs3914132
gopubmedrs3914132
geneviewrs3914132
scholarrs3914132
googlers3914132
pharmgkbrs3914132
gwascentralrs3914132
openSNPrs3914132
23andMers3914132
23andMe allrs3914132
SNP Nexus

SNPshotrs3914132
SNPdbers3914132
MSV3drs3914132
GWAS Ctlgrs3914132
GMAF0.1823
Max Magnitude2
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 19230858OA-icon.png]
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.

OMIM166800
DescOTOSCLEROSIS; OTSC1
Variant
Relatedalso



[PMID 20642811] Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia




GET Evidence
rs3914132
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.84375
summary