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rs398123070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123070(A;A)
Make rs398123070(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position146340404
GenePOU4F3
is asnp
is mentioned by
dbSNPrs398123070
dbSNP (classic)rs398123070
ClinGenrs398123070
ebirs398123070
HLIrs398123070
Exacrs398123070
Gnomadrs398123070
Varsomers398123070
LitVarrs398123070
Maprs398123070
PheGenIrs398123070
Biobankrs398123070
1000 genomesrs398123070
hgdprs398123070
ensemblrs398123070
geneviewrs398123070
scholarrs398123070
googlers398123070
pharmgkbrs398123070
gwascentralrs398123070
openSNPrs398123070
23andMers398123070
SNPshotrs398123070
SNPdbers398123070
MSV3drs398123070
GWAS Ctlgrs398123070
Max Magnitude0
ClinVar
Risk rs398123070(A;A)
Alt rs398123070(A;A)
Reference Rs398123070(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene POU4F3
CLNDBN Deafness, autosomal dominant 15
Reversed 0
HGVS NC_000005.9:g.145719967G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000082870.2,