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rs121908349

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908349(A;A)
Make rs121908349(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position71793532
GeneCDH23
is asnp
is mentioned by
dbSNPrs121908349
dbSNP (classic)rs121908349
ClinGenrs121908349
ebirs121908349
HLIrs121908349
Exacrs121908349
Gnomadrs121908349
Varsomers121908349
LitVarrs121908349
Maprs121908349
PheGenIrs121908349
Biobankrs121908349
1000 genomesrs121908349
hgdprs121908349
ensemblrs121908349
geneviewrs121908349
scholarrs121908349
googlers121908349
pharmgkbrs121908349
gwascentralrs121908349
openSNPrs121908349
23andMers121908349
SNPshotrs121908349
SNPdbers121908349
MSV3drs121908349
GWAS Ctlgrs121908349
Max Magnitude0
OMIM605516
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908349(A;A) rs121908349(T;T)
Alt rs121908349(A;A) rs121908349(T;T)
Reference Rs121908349(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene CDH23
CLNDBN Deafness, autosomal recessive 12
Reversed 0
HGVS NC_000010.10:g.73553289G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005202.3,