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rs397515594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs397515594(-;-)
Make rs397515594(-;GG)
ReferenceGRCh38 38.1/141
Chromosome2
Position26476309
GeneOTOF
is asnp
is mentioned by
dbSNPrs397515594
dbSNP (classic)rs397515594
ClinGenrs397515594
ebirs397515594
HLIrs397515594
Exacrs397515594
Gnomadrs397515594
Varsomers397515594
LitVarrs397515594
Maprs397515594
PheGenIrs397515594
Biobankrs397515594
1000 genomesrs397515594
hgdprs397515594
ensemblrs397515594
geneviewrs397515594
scholarrs397515594
googlers397515594
pharmgkbrs397515594
gwascentralrs397515594
openSNPrs397515594
23andMers397515594
SNPshotrs397515594
SNPdbers397515594
MSV3drs397515594
GWAS Ctlgrs397515594
Max Magnitude0
ClinVar
Risk rs397515594(-;-)
Alt rs397515594(-;-)
Reference Rs397515594(GG;GG)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26699177_26699178delCC
CLNSRC ClinVar GeneReviews
CLNACC RCV000056030.1,