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rs104894397

From SNPedia

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


Make rs104894397(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189353
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894397
ebirs104894397
HLIrs104894397
Exacrs104894397
Varsomers104894397
Maprs104894397
PheGenIrs104894397
hapmaprs104894397
1000 genomesrs104894397
hgdprs104894397
ensemblrs104894397
gopubmedrs104894397
geneviewrs104894397
scholarrs104894397
googlers104894397
pharmgkbrs104894397
gwascentralrs104894397
openSNPrs104894397
23andMers104894397
23andMe allrs104894397
SNP Nexus

SNPshotrs104894397
SNPdbers104894397
MSV3drs104894397
GWAS Ctlgrs104894397
Max Magnitude3
OMIM121011
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894397(C;C)
Alt rs104894397(C;C)
Reference rs104894397(T;T)
Significance Pathogenic
Disease Deafness not provided Non-syndromic genetic deafness
Variation info
Gene GJB2
CLNDBN Deafness, autosomal recessive 1A not provided Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20763492A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000018526.33, RCV000080368.3, RCV000211765.1,