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rs121908352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908352(C;C)
Make rs121908352(C;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71785051
GeneCDH23
is asnp
is mentioned by
dbSNPrs121908352
dbSNP (classic)rs121908352
ClinGenrs121908352
ebirs121908352
HLIrs121908352
Exacrs121908352
Gnomadrs121908352
Varsomers121908352
LitVarrs121908352
Maprs121908352
PheGenIrs121908352
Biobankrs121908352
1000 genomesrs121908352
hgdprs121908352
ensemblrs121908352
geneviewrs121908352
scholarrs121908352
googlers121908352
pharmgkbrs121908352
gwascentralrs121908352
openSNPrs121908352
23andMers121908352
SNPshotrs121908352
SNPdbers121908352
MSV3drs121908352
GWAS Ctlgrs121908352
Max Magnitude0
OMIM605516
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908352(C;C)
Alt rs121908352(C;C)
Reference Rs121908352(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene CDH23
CLNDBN Deafness, autosomal recessive 12
Reversed 0
HGVS NC_000010.10:g.73544808T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005206.4,