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rs121908354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908354(C;T)
Make rs121908354(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71570884
GeneCDH23, LOC101929085
is asnp
is mentioned by
dbSNPrs121908354
ebirs121908354
HLIrs121908354
Exacrs121908354
Varsomers121908354
Maprs121908354
PheGenIrs121908354
hapmaprs121908354
1000 genomesrs121908354
hgdprs121908354
ensemblrs121908354
gopubmedrs121908354
geneviewrs121908354
scholarrs121908354
googlers121908354
pharmgkbrs121908354
gwascentralrs121908354
openSNPrs121908354
23andMers121908354
23andMe allrs121908354
SNP Nexus

SNPshotrs121908354
SNPdbers121908354
MSV3drs121908354
GWAS Ctlgrs121908354
GMAF0.0004591
Max Magnitude0
OMIM605516
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908354(T;T)
Alt rs121908354(T;T)
Reference rs121908354(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene LOC101929085 CDH23
CLNDBN Deafness, autosomal recessive 12
Reversed 0
HGVS NC_000010.10:g.73330641C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005211.3,