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rs104894414

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894414(C;T)
Make rs104894414(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20223467
GeneGJB6
is asnp
is mentioned by
dbSNPrs104894414
ebirs104894414
HLIrs104894414
Exacrs104894414
Varsomers104894414
Maprs104894414
PheGenIrs104894414
hapmaprs104894414
1000 genomesrs104894414
hgdprs104894414
ensemblrs104894414
gopubmedrs104894414
geneviewrs104894414
scholarrs104894414
googlers104894414
pharmgkbrs104894414
gwascentralrs104894414
openSNPrs104894414
23andMers104894414
23andMe allrs104894414
SNP Nexus

SNPshotrs104894414
SNPdbers104894414
MSV3drs104894414
GWAS Ctlgrs104894414
Max Magnitude0
OMIM604418
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894414(T;T)
Alt rs104894414(T;T)
Reference rs104894414(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene GJB6
CLNDBN Deafness, autosomal dominant 3b
Reversed 1
HGVS NC_000013.10:g.20797606G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000088666.3,