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rs104894409

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a recessive deafness mutation
(C;G) 3 Carrier of a recessive deafness mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a recessive deafness mutation


Make rs104894409(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189332
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894409
ebirs104894409
HLIrs104894409
Exacrs104894409
Varsomers104894409
Maprs104894409
PheGenIrs104894409
hapmaprs104894409
1000 genomesrs104894409
hgdprs104894409
ensemblrs104894409
gopubmedrs104894409
geneviewrs104894409
scholarrs104894409
googlers104894409
pharmgkbrs104894409
gwascentralrs104894409
openSNPrs104894409
23andMers104894409
23andMe allrs104894409
SNP Nexus

SNPshotrs104894409
SNPdbers104894409
MSV3drs104894409
GWAS Ctlgrs104894409
Max Magnitude3
OMIM121011
Desc
Variant0032
Relatedalso
OMIM121011
Desc
Variant0037
Relatedalso
ClinVar
Risk rs104894409(A,C,T;A,C,T)
Alt rs104894409(A,C,T;A,C,T)
Reference rs104894409(G;G)
Significance Other
Disease not provided Deafness Hearing impairment Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN not provided Deafness, autosomal recessive 1A Hearing impairment Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763471C>A; NC_000013.10:g.20763471C>G; NC_000013.10:g.20763471C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000153314.2, RCV000169112.2, RCV000018560.34, RCV000146012.1, RCV000211770.1, RCV000018564.27, RCV000211769.1,


[PMID 9529365OA-icon.png] Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.


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


[PMID 16222667] Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.


[PMID 11556849] Connexin 26 studies in patients with sensorineural hearing loss.


[PMID 14985372OA-icon.png] A genotype-phenotype correlation for GJB2 (connexin 26) deafness.


[PMID 15592461] Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.


[PMID 16380907OA-icon.png] GJB2 mutations and degree of hearing loss: a multicenter study.