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rs143343083

From SNPedia

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


Make rs143343083(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position20189284
GeneGJB2
is asnp
is mentioned by
dbSNPrs143343083
ebirs143343083
HLIrs143343083
Exacrs143343083
Varsomers143343083
Maprs143343083
PheGenIrs143343083
hapmaprs143343083
1000 genomesrs143343083
hgdprs143343083
ensemblrs143343083
gopubmedrs143343083
geneviewrs143343083
scholarrs143343083
googlers143343083
pharmgkbrs143343083
gwascentralrs143343083
openSNPrs143343083
23andMers143343083
23andMe allrs143343083
SNP Nexus

SNPshotrs143343083
SNPdbers143343083
MSV3drs143343083
GWAS Ctlgrs143343083
Max Magnitude3
ClinVar
Risk rs143343083(A;A)
Alt rs143343083(A;A)
Reference rs143343083(G;G)
Significance Pathogenic
Disease Hearing impairment Deafness Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Hearing impairment Deafness, autosomal recessive 1A Non-syndromic genetic deafness
Reversed 0
HGVS NC_000013.10:g.20763423G>A
CLNSRC ClinVar University of Chicago
CLNACC RCV000146015.1, RCV000169347.1, RCV000215444.1,