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rs397515579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs397515579(C;C)
Make rs397515579(C;GG)
ReferenceGRCh38 38.1/141
Chromosome2
Position26484575
GeneOTOF
is asnp
is mentioned by
dbSNPrs397515579
dbSNP (classic)rs397515579
ClinGenrs397515579
ebirs397515579
HLIrs397515579
Exacrs397515579
Gnomadrs397515579
Varsomers397515579
LitVarrs397515579
Maprs397515579
PheGenIrs397515579
Biobankrs397515579
1000 genomesrs397515579
hgdprs397515579
ensemblrs397515579
geneviewrs397515579
scholarrs397515579
googlers397515579
pharmgkbrs397515579
gwascentralrs397515579
openSNPrs397515579
23andMers397515579
SNPshotrs397515579
SNPdbers397515579
MSV3drs397515579
GWAS Ctlgrs397515579
Max Magnitude0
ClinVar
Risk rs397515579(C;C)
Alt rs397515579(C;C)
Reference Rs397515579(GG;GG)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26707443_26707444delCCinsG
CLNSRC ClinVar GeneReviews
CLNACC RCV000056011.1,