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rs121909110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909110(C;T)
Make rs121909110(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position76439682
GeneESRRB
is asnp
is mentioned by
dbSNPrs121909110
dbSNP (classic)rs121909110
ClinGenrs121909110
ebirs121909110
HLIrs121909110
Exacrs121909110
Gnomadrs121909110
Varsomers121909110
LitVarrs121909110
Maprs121909110
PheGenIrs121909110
Biobankrs121909110
1000 genomesrs121909110
hgdprs121909110
ensemblrs121909110
geneviewrs121909110
scholarrs121909110
googlers121909110
pharmgkbrs121909110
gwascentralrs121909110
openSNPrs121909110
23andMers121909110
SNPshotrs121909110
SNPdbers121909110
MSV3drs121909110
GWAS Ctlgrs121909110
Max Magnitude0
OMIM602167
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909110(T;T)
Alt rs121909110(T;T)
Reference Rs121909110(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene ESRRB
CLNDBN Deafness, autosomal recessive 35
Reversed 0
HGVS NC_000014.8:g.76906025C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007928.2,