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rs397515590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515590(-;-)
Make rs397515590(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position26479600
GeneOTOF
is asnp
is mentioned by
dbSNPrs397515590
dbSNP (classic)rs397515590
ClinGenrs397515590
ebirs397515590
HLIrs397515590
Exacrs397515590
Gnomadrs397515590
Varsomers397515590
LitVarrs397515590
Maprs397515590
PheGenIrs397515590
Biobankrs397515590
1000 genomesrs397515590
hgdprs397515590
ensemblrs397515590
geneviewrs397515590
scholarrs397515590
googlers397515590
pharmgkbrs397515590
gwascentralrs397515590
openSNPrs397515590
23andMers397515590
SNPshotrs397515590
SNPdbers397515590
MSV3drs397515590
GWAS Ctlgrs397515590
Max Magnitude0
ClinVar
Risk rs397515590(-;-)
Alt rs397515590(-;-)
Reference Rs397515590(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26702468delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000056025.1,