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rs387906502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906502(C;T)
Make rs387906502(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position83509259
GenePOU3F4
is asnp
is mentioned by
dbSNPrs387906502
dbSNP (classic)rs387906502
ClinGenrs387906502
ebirs387906502
HLIrs387906502
Exacrs387906502
Gnomadrs387906502
Varsomers387906502
LitVarrs387906502
Maprs387906502
PheGenIrs387906502
Biobankrs387906502
1000 genomesrs387906502
hgdprs387906502
ensemblrs387906502
geneviewrs387906502
scholarrs387906502
googlers387906502
pharmgkbrs387906502
gwascentralrs387906502
openSNPrs387906502
23andMers387906502
SNPshotrs387906502
SNPdbers387906502
MSV3drs387906502
GWAS Ctlgrs387906502
Max Magnitude0
ClinVar
Risk rs387906502(T;T)
Alt rs387906502(T;T)
Reference Rs387906502(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene POU3F4
CLNDBN Deafness, X-linked 2
Reversed 0
HGVS NC_000023.10:g.82764267C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012448.15,