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rs104894398

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a recessive deafness mutation
Make rs104894398(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189443
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894398
ebirs104894398
HLIrs104894398
Exacrs104894398
Varsomers104894398
Maprs104894398
PheGenIrs104894398
hapmaprs104894398
1000 genomesrs104894398
hgdprs104894398
ensemblrs104894398
gopubmedrs104894398
geneviewrs104894398
scholarrs104894398
googlers104894398
pharmgkbrs104894398
gwascentralrs104894398
openSNPrs104894398
23andMers104894398
23andMe allrs104894398
SNP Nexus

SNPshotrs104894398
SNPdbers104894398
MSV3drs104894398
GWAS Ctlgrs104894398
Max Magnitude3
OMIM121011
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894398(T;T)
Alt rs104894398(T;T)
Reference rs104894398(G;G)
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.20763582C>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000018529.33, RCV000080366.3, RCV000146008.1, RCV000211760.1,


[PMID 9336442] Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.


[PMID 10905664] Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates.


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