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rs76434661

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs76434661(C;T)
Make rs76434661(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position20189166
GeneGJB2
is asnp
is mentioned by
dbSNPrs76434661
dbSNP (classic)rs76434661
ClinGenrs76434661
ebirs76434661
HLIrs76434661
Exacrs76434661
Gnomadrs76434661
Varsomers76434661
LitVarrs76434661
Maprs76434661
PheGenIrs76434661
Biobankrs76434661
1000 genomesrs76434661
hgdprs76434661
ensemblrs76434661
geneviewrs76434661
scholarrs76434661
googlers76434661
pharmgkbrs76434661
gwascentralrs76434661
openSNPrs76434661
23andMers76434661
SNPshotrs76434661
SNPdbers76434661
MSV3drs76434661
GWAS Ctlgrs76434661
Max Magnitude0
ClinVar
Risk rs76434661(T;T)
Alt rs76434661(T;T)
Reference Rs76434661(C;C)
Significance Pathogenic
Disease Nonsyndromic hearing loss and deafness Hearing impairment not provided Deafness
Variation info
Gene GJB2
CLNDBN Nonsyndromic hearing loss and deafness Hearing impairment not provided Deafness, autosomal recessive 1A Deafness, autosomal dominant 3a
Reversed 0
HGVS NC_000013.10:g.20763305C>T
CLNSRC ClinVar University of Chicago
CLNACC RCV000037851.2, RCV000146022.1, RCV000255015.1, RCV000289146.2, RCV000409236.1,