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rs13031859

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs13031859(A;A)
Make rs13031859(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26519093
GeneOTOF
is asnp
is mentioned by
dbSNPrs13031859
ebirs13031859
HLIrs13031859
Exacrs13031859
Varsomers13031859
Maprs13031859
PheGenIrs13031859
hapmaprs13031859
1000 genomesrs13031859
hgdprs13031859
ensemblrs13031859
gopubmedrs13031859
geneviewrs13031859
scholarrs13031859
googlers13031859
pharmgkbrs13031859
gwascentralrs13031859
openSNPrs13031859
23andMers13031859
23andMe allrs13031859
SNP Nexus

SNPshotrs13031859
SNPdbers13031859
MSV3drs13031859
GWAS Ctlgrs13031859
GMAF0.281
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene OTOF
allele A
frequency 0.458
sift TOLERATED
HuRef 1103658049716
Disease Association Defects in OTOF are the cause of nonsyndromic autosomal recessive deafness 9 (DFNB9) (MIM:601071).



ClinVar
Risk rs13031859(A;A)
Alt rs13031859(A;A)
Reference rs13031859(G;G)
Significance Non-pathogenic
Disease Deafness not specified
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9 not specified
Reversed 0
HGVS NC_000002.11:g.26741961G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000021048.1, RCV000041497.2,



GET Evidence
OTOF-R82C
aa_change Arg82Cys
aa_change_short R82C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.365192
summary