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rs181805996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs181805996(A;T)
Make rs181805996(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position26484485
GeneOTOF
is asnp
is mentioned by
dbSNPrs181805996
dbSNP (classic)rs181805996
ClinGenrs181805996
ebirs181805996
HLIrs181805996
Exacrs181805996
Gnomadrs181805996
Varsomers181805996
LitVarrs181805996
Maprs181805996
PheGenIrs181805996
Biobankrs181805996
1000 genomesrs181805996
hgdprs181805996
ensemblrs181805996
geneviewrs181805996
scholarrs181805996
googlers181805996
pharmgkbrs181805996
gwascentralrs181805996
openSNPrs181805996
23andMers181805996
SNPshotrs181805996
SNPdbers181805996
MSV3drs181805996
GWAS Ctlgrs181805996
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs181805996(T;T)
Alt rs181805996(T;T)
Reference Rs181805996(A;A)
Significance Pathogenic
Disease not specified Deafness
Variation info
Gene OTOF
CLNDBN not specified Deafness, autosomal recessive 9
Reversed 0
HGVS NC_000002.11:g.26707353A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000041456.3, RCV000056013.1,