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rs121908348

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908348(A;A)
Make rs121908348(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position71791215
GeneCDH23, MIR7152
is asnp
is mentioned by
dbSNPrs121908348
dbSNP (classic)rs121908348
ClinGenrs121908348
ebirs121908348
HLIrs121908348
Exacrs121908348
Gnomadrs121908348
Varsomers121908348
LitVarrs121908348
Maprs121908348
PheGenIrs121908348
Biobankrs121908348
1000 genomesrs121908348
hgdprs121908348
ensemblrs121908348
geneviewrs121908348
scholarrs121908348
googlers121908348
pharmgkbrs121908348
gwascentralrs121908348
openSNPrs121908348
23andMers121908348
SNPshotrs121908348
SNPdbers121908348
MSV3drs121908348
GWAS Ctlgrs121908348
Max Magnitude0
OMIM605516
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908348(A;A)
Alt rs121908348(A;A)
Reference Rs121908348(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene MIR7152 CDH23
CLNDBN Deafness, autosomal recessive 12
Reversed 0
HGVS NC_000010.10:g.73550972G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005201.3,