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rs121909063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909063(C;T)
Make rs121909063(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position121168135
GeneTECTA
is asnp
is mentioned by
dbSNPrs121909063
dbSNP (classic)rs121909063
ClinGenrs121909063
ebirs121909063
HLIrs121909063
Exacrs121909063
Gnomadrs121909063
Varsomers121909063
LitVarrs121909063
Maprs121909063
PheGenIrs121909063
Biobankrs121909063
1000 genomesrs121909063
hgdprs121909063
ensemblrs121909063
geneviewrs121909063
scholarrs121909063
googlers121909063
pharmgkbrs121909063
gwascentralrs121909063
openSNPrs121909063
23andMers121909063
SNPshotrs121909063
SNPdbers121909063
MSV3drs121909063
GWAS Ctlgrs121909063
Max Magnitude0
OMIM602574
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909063(T;T)
Alt rs121909063(T;T)
Reference Rs121909063(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene TECTA
CLNDBN Deafness, autosomal dominant 12
Reversed 0
HGVS NC_000011.9:g.121038844C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007437.2,