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rs878853241

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853241(C;C)
Make rs878853241(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position20189182
GeneGJB2
is asnp
is mentioned by
dbSNPrs878853241
ebirs878853241
HLIrs878853241
Exacrs878853241
Varsomers878853241
Maprs878853241
PheGenIrs878853241
hapmaprs878853241
1000 genomesrs878853241
hgdprs878853241
ensemblrs878853241
gopubmedrs878853241
geneviewrs878853241
scholarrs878853241
googlers878853241
pharmgkbrs878853241
gwascentralrs878853241
openSNPrs878853241
23andMers878853241
23andMe allrs878853241
SNP Nexus

SNPshotrs878853241
SNPdbers878853241
MSV3drs878853241
GWAS Ctlgrs878853241
Max Magnitude0
ClinVar
Risk rs878853241(C;C)
Alt rs878853241(C;C)
Reference rs878853241(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 12
Reversed 1
HGVS NC_000013.10:g.20763321A>G
CLNSRC
CLNACC RCV000225073.1,