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rs397515591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515591(G;T)
Make rs397515591(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26477725
GeneOTOF
is asnp
is mentioned by
dbSNPrs397515591
dbSNP (classic)rs397515591
ClinGenrs397515591
ebirs397515591
HLIrs397515591
Exacrs397515591
Gnomadrs397515591
Varsomers397515591
LitVarrs397515591
Maprs397515591
PheGenIrs397515591
Biobankrs397515591
1000 genomesrs397515591
hgdprs397515591
ensemblrs397515591
geneviewrs397515591
scholarrs397515591
googlers397515591
pharmgkbrs397515591
gwascentralrs397515591
openSNPrs397515591
23andMers397515591
SNPshotrs397515591
SNPdbers397515591
MSV3drs397515591
GWAS Ctlgrs397515591
Max Magnitude0
ClinVar
Risk rs397515591(T;T)
Alt rs397515591(T;T)
Reference Rs397515591(G;G)
Significance Pathogenic
Disease Deafness Nonsyndromic hearing loss and deafness not provided
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9 Nonsyndromic hearing loss and deafness not provided
Reversed 1
HGVS NC_000002.11:g.26700593C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000056026.3, RCV000211840.1, RCV000318963.1,