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rs397515599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515599(C;C)
Make rs397515599(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26473563
GeneOTOF
is asnp
is mentioned by
dbSNPrs397515599
dbSNP (classic)rs397515599
ClinGenrs397515599
ebirs397515599
HLIrs397515599
Exacrs397515599
Gnomadrs397515599
Varsomers397515599
LitVarrs397515599
Maprs397515599
PheGenIrs397515599
Biobankrs397515599
1000 genomesrs397515599
hgdprs397515599
ensemblrs397515599
geneviewrs397515599
scholarrs397515599
googlers397515599
pharmgkbrs397515599
gwascentralrs397515599
openSNPrs397515599
23andMers397515599
SNPshotrs397515599
SNPdbers397515599
MSV3drs397515599
GWAS Ctlgrs397515599
Max Magnitude0
ClinVar
Risk rs397515599(C;C)
Alt rs397515599(C;C)
Reference Rs397515599(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26696431A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056038.1,