Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356594(A;A)
Make rs80356594(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26475913
GeneOTOF
is asnp
is mentioned by
dbSNPrs80356594
ebirs80356594
HLIrs80356594
Exacrs80356594
Varsomers80356594
Maprs80356594
PheGenIrs80356594
hapmaprs80356594
1000 genomesrs80356594
hgdprs80356594
ensemblrs80356594
gopubmedrs80356594
geneviewrs80356594
scholarrs80356594
googlers80356594
pharmgkbrs80356594
gwascentralrs80356594
openSNPrs80356594
23andMers80356594
23andMe allrs80356594
SNP Nexus

SNPshotrs80356594
SNPdbers80356594
MSV3drs80356594
GWAS Ctlgrs80356594
Max Magnitude0
ClinVar
Risk rs80356594(A;A)
Alt rs80356594(A;A)
Reference rs80356594(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26698781C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000021053.1,


[PMID 10878664] Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.