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rs397515592

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515592(A;A)
Make rs397515592(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position26477506
GeneOTOF
is asnp
is mentioned by
dbSNPrs397515592
dbSNP (classic)rs397515592
ClinGenrs397515592
ebirs397515592
HLIrs397515592
Exacrs397515592
Gnomadrs397515592
Varsomers397515592
LitVarrs397515592
Maprs397515592
PheGenIrs397515592
Biobankrs397515592
1000 genomesrs397515592
hgdprs397515592
ensemblrs397515592
geneviewrs397515592
scholarrs397515592
googlers397515592
pharmgkbrs397515592
gwascentralrs397515592
openSNPrs397515592
23andMers397515592
SNPshotrs397515592
SNPdbers397515592
MSV3drs397515592
GWAS Ctlgrs397515592
Max Magnitude0
ClinVar
Risk rs397515592(A;A)
Alt rs397515592(A;A)
Reference Rs397515592(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26700374G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056028.1,