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rs121909056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909056(C;T)
Make rs121909056(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position146340292
GenePOU4F3
is asnp
is mentioned by
dbSNPrs121909056
ebirs121909056
HLIrs121909056
Exacrs121909056
Varsomers121909056
Maprs121909056
PheGenIrs121909056
hapmaprs121909056
1000 genomesrs121909056
hgdprs121909056
ensemblrs121909056
gopubmedrs121909056
geneviewrs121909056
scholarrs121909056
googlers121909056
pharmgkbrs121909056
gwascentralrs121909056
openSNPrs121909056
23andMers121909056
23andMe allrs121909056
SNP Nexus

SNPshotrs121909056
SNPdbers121909056
MSV3drs121909056
GWAS Ctlgrs121909056
Max Magnitude0
OMIM602460
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909056(T;T)
Alt rs121909056(T;T)
Reference rs121909056(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene POU4F3
CLNDBN Deafness, autosomal dominant 15
Reversed 0
HGVS NC_000005.9:g.145719855C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007495.2,