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rs28931595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 4 Deafness mutation (dominant)
(G;G) 0 common in clinvar


Make rs28931595(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189047
GeneGJB2
is asnp
is mentioned by
dbSNPrs28931595
dbSNP (old)rs28931595
ClinGenrs28931595
ebirs28931595
HLIrs28931595
Exacrs28931595
Gnomadrs28931595
Varsomers28931595
Maprs28931595
PheGenIrs28931595
Biobankrs28931595
1000 genomesrs28931595
hgdprs28931595
ensemblrs28931595
gopubmedrs28931595
geneviewrs28931595
scholarrs28931595
googlers28931595
pharmgkbrs28931595
gwascentralrs28931595
openSNPrs28931595
23andMers28931595
23andMe allrs28931595
SNPshotrs28931595
SNPdbers28931595
MSV3drs28931595
GWAS Ctlgrs28931595
Max Magnitude4

deafness

OMIM121011
DescDEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 3
Variant0028
Relatedalso


ClinVar
Risk rs28931595(A;A) rs28931595(T;T)
Alt rs28931595(A;A) rs28931595(T;T)
Reference Rs28931595(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal dominant 3a
Reversed 1
HGVS NC_000013.10:g.20763186C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018553.28,