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rs397514588

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514588(C;T)
Make rs397514588(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position80229341
GeneOTOGL
is asnp
is mentioned by
dbSNPrs397514588
ebirs397514588
HLIrs397514588
Exacrs397514588
Varsomers397514588
Maprs397514588
PheGenIrs397514588
hapmaprs397514588
1000 genomesrs397514588
hgdprs397514588
ensemblrs397514588
gopubmedrs397514588
geneviewrs397514588
scholarrs397514588
googlers397514588
pharmgkbrs397514588
gwascentralrs397514588
openSNPrs397514588
23andMers397514588
23andMe allrs397514588
SNP Nexus

SNPshotrs397514588
SNPdbers397514588
MSV3drs397514588
GWAS Ctlgrs397514588
Max Magnitude0
ClinVar
Risk rs397514588(T;T)
Alt rs397514588(T;T)
Reference rs397514588(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOGL
CLNDBN Deafness, autosomal recessive 84b
Reversed 0
HGVS NC_000012.11:g.80623121C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033001.2,