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rs397515611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515611(C;C)
Make rs397515611(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26501754
GeneOTOF
is asnp
is mentioned by
dbSNPrs397515611
dbSNP (classic)rs397515611
ClinGenrs397515611
ebirs397515611
HLIrs397515611
Exacrs397515611
Gnomadrs397515611
Varsomers397515611
LitVarrs397515611
Maprs397515611
PheGenIrs397515611
Biobankrs397515611
1000 genomesrs397515611
hgdprs397515611
ensemblrs397515611
geneviewrs397515611
scholarrs397515611
googlers397515611
pharmgkbrs397515611
gwascentralrs397515611
openSNPrs397515611
23andMers397515611
SNPshotrs397515611
SNPdbers397515611
MSV3drs397515611
GWAS Ctlgrs397515611
Max Magnitude0
ClinVar
Risk rs397515611(C;C)
Alt rs397515611(C;C)
Reference Rs397515611(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26724622C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000056055.1,