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rs397517206

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs397517206(CG;T)
Make rs397517206(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position20223420
GeneGJB6
is asnp
is mentioned by
dbSNPrs397517206
ebirs397517206
HLIrs397517206
Exacrs397517206
Varsomers397517206
Maprs397517206
PheGenIrs397517206
hapmaprs397517206
1000 genomesrs397517206
hgdprs397517206
ensemblrs397517206
gopubmedrs397517206
geneviewrs397517206
scholarrs397517206
googlers397517206
pharmgkbrs397517206
gwascentralrs397517206
openSNPrs397517206
23andMers397517206
23andMe allrs397517206
SNP Nexus

SNPshotrs397517206
SNPdbers397517206
MSV3drs397517206
GWAS Ctlgrs397517206
Max Magnitude0
ClinVar
Risk rs397517206(T;T)
Alt rs397517206(T;T)
Reference rs397517206(CG;CG)
Significance Probable-Pathogenic
Disease Non-syndromic genetic deafness
Variation info
Gene GJB6
CLNDBN Non-syndromic genetic deafness
Reversed 1
HGVS NC_000013.10:g.20797559_20797560delCGinsA
CLNSRC ClinVar
CLNACC RCV000038711.2,