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rs397515593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515593(A;A)
Make rs397515593(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position26476918
GeneOTOF
is asnp
is mentioned by
dbSNPrs397515593
ebirs397515593
HLIrs397515593
Exacrs397515593
Varsomers397515593
Maprs397515593
PheGenIrs397515593
hapmaprs397515593
1000 genomesrs397515593
hgdprs397515593
ensemblrs397515593
gopubmedrs397515593
geneviewrs397515593
scholarrs397515593
googlers397515593
pharmgkbrs397515593
gwascentralrs397515593
openSNPrs397515593
23andMers397515593
23andMe allrs397515593
SNP Nexus

SNPshotrs397515593
SNPdbers397515593
MSV3drs397515593
GWAS Ctlgrs397515593
Max Magnitude0
ClinVar
Risk rs397515593(A,T;A,T)
Alt rs397515593(A,T;A,T)
Reference rs397515593(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26699786G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056029.1,