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rs397515595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(C;G) 0 normal
Make rs397515595(-;-)
Make rs397515595(-;AGCT)
Make rs397515595(AGCT;AGCT)
ReferenceGRCh38 38.1/141
Chromosome2
Position26476258
GeneOTOF
is asnp
is mentioned by
dbSNPrs397515595
ebirs397515595
HLIrs397515595
Exacrs397515595
Varsomers397515595
Maprs397515595
PheGenIrs397515595
hapmaprs397515595
1000 genomesrs397515595
hgdprs397515595
ensemblrs397515595
gopubmedrs397515595
geneviewrs397515595
scholarrs397515595
googlers397515595
pharmgkbrs397515595
gwascentralrs397515595
openSNPrs397515595
23andMers397515595
23andMe allrs397515595
SNP Nexus

SNPshotrs397515595
SNPdbers397515595
MSV3drs397515595
GWAS Ctlgrs397515595
Max Magnitude0

the duplication is considered a recessive mutation associated with a form of deafness

the C/G genotypes, i.e. (C;C), (C;G), and (G;G), appear to be benign polymorphic variants, based on ~0.5 allele frequencies as reported in ExAC

note that somehow this position therefore appears to have nomenclature issues

ClinVar
Risk rs397515595(AGCT;AGCT)
Alt rs397515595(AGCT;AGCT)
Reference rs397515595(;)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26699127_26699130dupAGCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000056031.1,