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rs397515582

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515582(C;T)
Make rs397515582(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26483581
GeneOTOF
is asnp
is mentioned by
dbSNPrs397515582
dbSNP (classic)rs397515582
ClinGenrs397515582
ebirs397515582
HLIrs397515582
Exacrs397515582
Gnomadrs397515582
Varsomers397515582
LitVarrs397515582
Maprs397515582
PheGenIrs397515582
Biobankrs397515582
1000 genomesrs397515582
hgdprs397515582
ensemblrs397515582
geneviewrs397515582
scholarrs397515582
googlers397515582
pharmgkbrs397515582
gwascentralrs397515582
openSNPrs397515582
23andMers397515582
SNPshotrs397515582
SNPdbers397515582
MSV3drs397515582
GWAS Ctlgrs397515582
Max Magnitude0
ClinVar
Risk rs397515582(T;T)
Alt rs397515582(T;T)
Reference Rs397515582(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26706449G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000056015.1,