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rs143939430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143939430(A;A)
Make rs143939430(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26465020
GeneOTOF
is asnp
is mentioned by
dbSNPrs143939430
ebirs143939430
HLIrs143939430
Exacrs143939430
Varsomers143939430
Maprs143939430
PheGenIrs143939430
hapmaprs143939430
1000 genomesrs143939430
hgdprs143939430
ensemblrs143939430
gopubmedrs143939430
geneviewrs143939430
scholarrs143939430
googlers143939430
pharmgkbrs143939430
gwascentralrs143939430
openSNPrs143939430
23andMers143939430
23andMe allrs143939430
SNP Nexus

SNPshotrs143939430
SNPdbers143939430
MSV3drs143939430
GWAS Ctlgrs143939430
Max Magnitude0
ClinVar
Risk rs143939430(A,T;A,T)
Alt rs143939430(A,T;A,T)
Reference rs143939430(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 0
HGVS NC_000002.11:g.26687888G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056044.1,