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rs121909061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909061(G;G)
Make rs121909061(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position121166703
GeneTECTA
is asnp
is mentioned by
dbSNPrs121909061
dbSNP (classic)rs121909061
ClinGenrs121909061
ebirs121909061
HLIrs121909061
Exacrs121909061
Gnomadrs121909061
Varsomers121909061
LitVarrs121909061
Maprs121909061
PheGenIrs121909061
Biobankrs121909061
1000 genomesrs121909061
hgdprs121909061
ensemblrs121909061
geneviewrs121909061
scholarrs121909061
googlers121909061
pharmgkbrs121909061
gwascentralrs121909061
openSNPrs121909061
23andMers121909061
SNPshotrs121909061
SNPdbers121909061
MSV3drs121909061
GWAS Ctlgrs121909061
Merged fromRs121909064
Max Magnitude0
OMIM602574
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121909061(C;C) rs121909061(G;G)
Alt rs121909061(C;C) rs121909061(G;G)
Reference Rs121909061(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene TECTA
CLNDBN Deafness, autosomal dominant 12
Reversed 0
HGVS NC_000011.9:g.121037412T>C; NC_000011.9:g.121037412T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007438.2, RCV000007435.2,