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rs104894407

From SNPedia

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


Make rs104894407(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20189450
GeneGJB2
is asnp
is mentioned by
dbSNPrs104894407
ebirs104894407
HLIrs104894407
Exacrs104894407
Varsomers104894407
Maprs104894407
PheGenIrs104894407
hapmaprs104894407
1000 genomesrs104894407
hgdprs104894407
ensemblrs104894407
gopubmedrs104894407
geneviewrs104894407
scholarrs104894407
googlers104894407
pharmgkbrs104894407
gwascentralrs104894407
openSNPrs104894407
23andMers104894407
23andMe allrs104894407
SNP Nexus

SNPshotrs104894407
SNPdbers104894407
MSV3drs104894407
GWAS Ctlgrs104894407
Max Magnitude3
OMIM121011
Desc
Variant0019
Relatedalso
ClinVar
Risk rs104894407(A,C;A,C)
Alt rs104894407(A,C;A,C)
Reference rs104894407(G;G)
Significance Pathogenic
Disease Deafness Hearing impairment
Variation info
Gene GJB2
CLNDBN Deafness, autosomal dominant 3a Hearing impairment
Reversed 1
HGVS NC_000013.10:g.20763589C>G; NC_000013.10:g.20763589C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018545.30, RCV000146007.1,