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rs111033335

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAGTGTTCATGACATTC;GTGTCTGGA) 3 Carrier of a recessive deafness mutation
(GTGTCTGGA;GTGTCTGGA) 0 common in clinvar


Make rs111033335(CAGTGTTCATGACATTC;CAGTGTTCATGACATTC)
ReferenceGRCh38 38.1/141
Chromosome13
Position20188982
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033335
ebirs111033335
HLIrs111033335
Exacrs111033335
Varsomers111033335
Maprs111033335
PheGenIrs111033335
hapmaprs111033335
1000 genomesrs111033335
hgdprs111033335
ensemblrs111033335
gopubmedrs111033335
geneviewrs111033335
scholarrs111033335
googlers111033335
pharmgkbrs111033335
gwascentralrs111033335
openSNPrs111033335
23andMers111033335
23andMe allrs111033335
SNP Nexus

SNPshotrs111033335
SNPdbers111033335
MSV3drs111033335
GWAS Ctlgrs111033335
Max Magnitude3
ClinVar
Risk rs111033335(CAGTGTTCATGACATTC;CAGTGTTCATGACATTC)
Alt rs111033335(CAGTGTTCATGACATTC;CAGTGTTCATGACATTC)
Reference rs111033335(GTGTCTGGA;GTGTCTGGA)
Significance Pathogenic
Disease Deafness Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763121_20763129delTCCAGACACinsGAATGTCATGAACACTG
CLNSRC ClinVar
CLNACC RCV000037866.4, RCV000211782.1,


[PMID 17041943OA-icon.png] DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.