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rs121909057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909057(C;C)
Make rs121909057(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position146340095
GenePOU4F3
is asnp
is mentioned by
dbSNPrs121909057
dbSNP (classic)rs121909057
ClinGenrs121909057
ebirs121909057
HLIrs121909057
Exacrs121909057
Gnomadrs121909057
Varsomers121909057
LitVarrs121909057
Maprs121909057
PheGenIrs121909057
Biobankrs121909057
1000 genomesrs121909057
hgdprs121909057
ensemblrs121909057
geneviewrs121909057
scholarrs121909057
googlers121909057
pharmgkbrs121909057
gwascentralrs121909057
openSNPrs121909057
23andMers121909057
SNPshotrs121909057
SNPdbers121909057
MSV3drs121909057
GWAS Ctlgrs121909057
Max Magnitude0
OMIM602460
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909057(C;C)
Alt rs121909057(C;C)
Reference Rs121909057(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene POU4F3
CLNDBN Deafness, autosomal dominant 15
Reversed 0
HGVS NC_000005.9:g.145719658T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007496.2,