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rs121908353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908353(C;T)
Make rs121908353(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71812822
GeneCDH23
is asnp
is mentioned by
dbSNPrs121908353
ebirs121908353
HLIrs121908353
Exacrs121908353
Varsomers121908353
Maprs121908353
PheGenIrs121908353
hapmaprs121908353
1000 genomesrs121908353
hgdprs121908353
ensemblrs121908353
gopubmedrs121908353
geneviewrs121908353
scholarrs121908353
googlers121908353
pharmgkbrs121908353
gwascentralrs121908353
openSNPrs121908353
23andMers121908353
23andMe allrs121908353
SNP Nexus

SNPshotrs121908353
SNPdbers121908353
MSV3drs121908353
GWAS Ctlgrs121908353
Max Magnitude0
OMIM605516
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908353(G,T;G,T)
Alt rs121908353(G,T;G,T)
Reference rs121908353(C;C)
Significance Pathogenic
Disease USHER SYNDROME not specified Usher syndrome
Variation info
Gene CDH23
CLNDBN USHER SYNDROME, TYPE ID/F, DIGENIC not specified Usher syndrome, type 1
Reversed 0
HGVS NC_000010.10:g.73572579C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005209.2, RCV000039312.2, RCV000222140.1,