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rs5921979

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(GGC;GGC) 0
Make rs5921979(C;C)
Make rs5921979(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position83509034
GenePOU3F4
is asnp
is mentioned by
dbSNPrs5921979
ebirs5921979
HLIrs5921979
Exacrs5921979
Varsomers5921979
Maprs5921979
PheGenIrs5921979
hapmaprs5921979
1000 genomesrs5921979
hgdprs5921979
ensemblrs5921979
gopubmedrs5921979
geneviewrs5921979
scholarrs5921979
googlers5921979
pharmgkbrs5921979
gwascentralrs5921979
openSNPrs5921979
23andMers5921979
23andMe allrs5921979
SNP Nexus

SNPshotrs5921979
SNPdbers5921979
MSV3drs5921979
GWAS Ctlgrs5921979
GMAF0.1076
Max Magnitude0
Venter snp
Source plos
Gene POU3F4
allele C
frequency
sift TOLERATED
HuRef 1103673053681
Disease Association Defects in POU3F4 are a cause of X-linked deafness type 3 (DFN3) (MIM:304400). DFN3 is a mixed type of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation and progressive sensorineural deafness.



ClinVar
Risk rs5921979(C;C)
Alt rs5921979(C;C)
Reference rs5921979(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene POU3F4
CLNDBN not specified
Reversed 0
HGVS NC_000023.10:g.82764042G>C
CLNSRC ClinVar
CLNACC RCV000036257.2,