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rs483353049

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483353049(G;T)
Make rs483353049(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position26494941
GeneOTOF
is asnp
is mentioned by
dbSNPrs483353049
ebirs483353049
HLIrs483353049
Exacrs483353049
Varsomers483353049
Maprs483353049
PheGenIrs483353049
hapmaprs483353049
1000 genomesrs483353049
hgdprs483353049
ensemblrs483353049
gopubmedrs483353049
geneviewrs483353049
scholarrs483353049
googlers483353049
pharmgkbrs483353049
gwascentralrs483353049
openSNPrs483353049
23andMers483353049
23andMe allrs483353049
SNP Nexus

SNPshotrs483353049
SNPdbers483353049
MSV3drs483353049
GWAS Ctlgrs483353049
Max Magnitude0
ClinVar
Risk rs483353049(T;T)
Alt rs483353049(T;T)
Reference rs483353049(G;G)
Significance Probable-Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 1
HGVS NC_000002.11:g.26717809C>A
CLNSRC ClinVar
CLNACC RCV000119821.1,