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rs111033295

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of a recessive deafness mutation
Make rs111033295(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189217
GeneGJB2
is asnp
is mentioned by
dbSNPrs111033295
ebirs111033295
HLIrs111033295
Exacrs111033295
Varsomers111033295
Maprs111033295
PheGenIrs111033295
hapmaprs111033295
1000 genomesrs111033295
hgdprs111033295
ensemblrs111033295
gopubmedrs111033295
geneviewrs111033295
scholarrs111033295
googlers111033295
pharmgkbrs111033295
gwascentralrs111033295
openSNPrs111033295
23andMers111033295
23andMe allrs111033295
SNP Nexus

SNPshotrs111033295
SNPdbers111033295
MSV3drs111033295
GWAS Ctlgrs111033295
Max Magnitude3
ClinVar
Risk rs111033295(T;T)
Alt rs111033295(T;T)
Reference rs111033295(A;A)
Significance Pathogenic
Disease Deafness not provided Hearing impairment Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A not provided Hearing impairment Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763356T>A
CLNSRC HGMD
CLNACC RCV000037844.4, RCV000080375.3, RCV000146021.1, RCV000211721.1,


[PMID 10376574] Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.


[PMID 12865758] Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.


[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.


[PMID 18776652] GJB2 mutations in Baluchi population.