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rs200023879

From SNPedia

Orientationplus
Geno Mag Summary
(C;G) 3 Carrier of a recessive deafness mutation
(G;G) 0 common in clinvar


Make rs200023879(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position20189374
GeneGJB2
is asnp
is mentioned by
dbSNPrs200023879
ebirs200023879
HLIrs200023879
Exacrs200023879
Varsomers200023879
Maprs200023879
PheGenIrs200023879
hapmaprs200023879
1000 genomesrs200023879
hgdprs200023879
ensemblrs200023879
gopubmedrs200023879
geneviewrs200023879
scholarrs200023879
googlers200023879
pharmgkbrs200023879
gwascentralrs200023879
openSNPrs200023879
23andMers200023879
23andMe allrs200023879
SNP Nexus

SNPshotrs200023879
SNPdbers200023879
MSV3drs200023879
GWAS Ctlgrs200023879
Max Magnitude3
ClinVar
Risk rs200023879(C;C)
Alt rs200023879(C;C)
Reference rs200023879(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 0
HGVS NC_000013.10:g.20763513G>C
CLNSRC
CLNACC RCV000168671.1,