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rs1060499794

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499794(A;A)
Make rs1060499794(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position76482046
GeneESRRB
is asnp
is mentioned by
dbSNPrs1060499794
dbSNP (classic)rs1060499794
ClinGenrs1060499794
ebirs1060499794
HLIrs1060499794
Exacrs1060499794
Gnomadrs1060499794
Varsomers1060499794
LitVarrs1060499794
Maprs1060499794
PheGenIrs1060499794
Biobankrs1060499794
1000 genomesrs1060499794
hgdprs1060499794
ensemblrs1060499794
geneviewrs1060499794
scholarrs1060499794
googlers1060499794
pharmgkbrs1060499794
gwascentralrs1060499794
openSNPrs1060499794
23andMers1060499794
SNPshotrs1060499794
SNPdbers1060499794
MSV3drs1060499794
GWAS Ctlgrs1060499794
Max Magnitude0
ClinVar
Risk rs1060499794(A;A)
Alt rs1060499794(A;A)
Reference Rs1060499794(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene ESRRB
CLNDBN Deafness, autosomal recessive 35
Reversed 0
HGVS NC_000014.8:g.76948389G>A
CLNSRC
CLNACC RCV000454320.1,