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rs1060499805

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499805(C;T)
Make rs1060499805(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position26468468
GeneOTOF
is asnp
is mentioned by
dbSNPrs1060499805
dbSNP (classic)rs1060499805
ClinGenrs1060499805
ebirs1060499805
HLIrs1060499805
Exacrs1060499805
Gnomadrs1060499805
Varsomers1060499805
LitVarrs1060499805
Maprs1060499805
PheGenIrs1060499805
Biobankrs1060499805
1000 genomesrs1060499805
hgdprs1060499805
ensemblrs1060499805
geneviewrs1060499805
scholarrs1060499805
googlers1060499805
pharmgkbrs1060499805
gwascentralrs1060499805
openSNPrs1060499805
23andMers1060499805
SNPshotrs1060499805
SNPdbers1060499805
MSV3drs1060499805
GWAS Ctlgrs1060499805
Max Magnitude0
ClinVar
Risk rs1060499805(T;T)
Alt rs1060499805(T;T)
Reference Rs1060499805(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26691336G>A
CLNSRC
CLNACC RCV000454315.1,