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rs397514607

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514607(C;T)
Make rs397514607(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17612638
GeneOTOG
is asnp
is mentioned by
dbSNPrs397514607
dbSNP (classic)rs397514607
ClinGenrs397514607
ebirs397514607
HLIrs397514607
Exacrs397514607
Gnomadrs397514607
Varsomers397514607
LitVarrs397514607
Maprs397514607
PheGenIrs397514607
Biobankrs397514607
1000 genomesrs397514607
hgdprs397514607
ensemblrs397514607
geneviewrs397514607
scholarrs397514607
googlers397514607
pharmgkbrs397514607
gwascentralrs397514607
openSNPrs397514607
23andMers397514607
SNPshotrs397514607
SNPdbers397514607
MSV3drs397514607
GWAS Ctlgrs397514607
Max Magnitude0
ClinVar
Risk rs397514607(T;T)
Alt rs397514607(T;T)
Reference Rs397514607(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOG
CLNDBN Deafness, autosomal recessive 18b
Reversed 0
HGVS NC_000011.9:g.17634185C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033039.2,