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rs483353050

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs483353050(-;-)
Make rs483353050(-;A)
ReferenceGRCh38 38.1/142
Chromosome2
Position26484507
GeneOTOF
is asnp
is mentioned by
dbSNPrs483353050
ebirs483353050
HLIrs483353050
Exacrs483353050
Varsomers483353050
Maprs483353050
PheGenIrs483353050
hapmaprs483353050
1000 genomesrs483353050
hgdprs483353050
ensemblrs483353050
gopubmedrs483353050
geneviewrs483353050
scholarrs483353050
googlers483353050
pharmgkbrs483353050
gwascentralrs483353050
openSNPrs483353050
23andMers483353050
23andMe allrs483353050
SNP Nexus

SNPshotrs483353050
SNPdbers483353050
MSV3drs483353050
GWAS Ctlgrs483353050
Max Magnitude0
ClinVar
Risk rs483353050(;)
Alt rs483353050(;)
Reference rs483353050(A;A)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26707375delT
CLNSRC ClinVar
CLNACC RCV000119820.1,