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rs876657693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCCAACACTGT;CCCAACACTGT) 0 common in clinvar
Make rs876657693(-;-)
Make rs876657693(-;CCCAACACTGT)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position20189049
GeneGJB2
is asnp
is mentioned by
dbSNPrs876657693
dbSNP (old)rs876657693
ClinGenrs876657693
ebirs876657693
HLIrs876657693
Exacrs876657693
Gnomadrs876657693
Varsomers876657693
Maprs876657693
PheGenIrs876657693
Biobankrs876657693
1000 genomesrs876657693
hgdprs876657693
ensemblrs876657693
gopubmedrs876657693
geneviewrs876657693
scholarrs876657693
googlers876657693
pharmgkbrs876657693
gwascentralrs876657693
openSNPrs876657693
23andMers876657693
23andMe allrs876657693
SNP Nexus

SNPshotrs876657693
SNPdbers876657693
MSV3drs876657693
GWAS Ctlgrs876657693
Max Magnitude0
ClinVar
Risk rs876657693(-;-)
Alt rs876657693(-;-)
Reference Rs876657693(CCCAACACTGT;CCCAACACTGT)
Significance Pathogenic
Disease Nonsyndromic hearing loss and deafness
Variation info
Gene GJB2
CLNDBN Nonsyndromic hearing loss and deafness
Reversed 1
HGVS NC_000013.10:g.20763188_20763198delACAGTGTTGGG
CLNSRC
CLNACC RCV000213910.1,