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rs28931592

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of a recessive deafness mutation
(T;T) 0
ReferenceGRCh38 38.1/141
Chromosome13
Position20189106
GeneGJB2
is asnp
is mentioned by
dbSNPrs28931592
ebirs28931592
HLIrs28931592
Exacrs28931592
Varsomers28931592
Maprs28931592
PheGenIrs28931592
hapmaprs28931592
1000 genomesrs28931592
hgdprs28931592
ensemblrs28931592
gopubmedrs28931592
geneviewrs28931592
scholarrs28931592
googlers28931592
pharmgkbrs28931592
gwascentralrs28931592
openSNPrs28931592
23andMers28931592
23andMe allrs28931592
SNP Nexus

SNPshotrs28931592
SNPdbers28931592
MSV3drs28931592
GWAS Ctlgrs28931592
Max Magnitude3
deafness
OMIM121011
DescDEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1
Variant0024
Relatedalso
Neighborrs28931595
Distance59
Neighborrs28931593
Distance252


ClinVar
Risk rs28931592(T;T)
Alt rs28931592(T;T)
Reference rs28931592(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A
Reversed 1
HGVS NC_000013.10:g.20763245T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018551.28,