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rs201329629

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201329629(A;A)
Make rs201329629(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position26476014
GeneOTOF
is asnp
is mentioned by
dbSNPrs201329629
dbSNP (classic)rs201329629
ClinGenrs201329629
ebirs201329629
HLIrs201329629
Exacrs201329629
Gnomadrs201329629
Varsomers201329629
LitVarrs201329629
Maprs201329629
PheGenIrs201329629
Biobankrs201329629
1000 genomesrs201329629
hgdprs201329629
ensemblrs201329629
geneviewrs201329629
scholarrs201329629
googlers201329629
pharmgkbrs201329629
gwascentralrs201329629
openSNPrs201329629
23andMers201329629
SNPshotrs201329629
SNPdbers201329629
MSV3drs201329629
GWAS Ctlgrs201329629
Max Magnitude0
ClinVar
Risk rs201329629(A;A) rs201329629(C;C) rs201329629(T;T)
Alt rs201329629(A;A) rs201329629(C;C) rs201329629(T;T)
Reference Rs201329629(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene OTOF
CLNDBN Deafness, autosomal recessive 9
Reversed 0
HGVS NC_000002.11:g.26698882G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000056032.1,