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rs397517337

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397517337(C;T)
Make rs397517337(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71779351
GeneCDH23
is asnp
is mentioned by
dbSNPrs397517337
dbSNP (classic)rs397517337
ClinGenrs397517337
ebirs397517337
HLIrs397517337
Exacrs397517337
Gnomadrs397517337
Varsomers397517337
LitVarrs397517337
Maprs397517337
PheGenIrs397517337
Biobankrs397517337
1000 genomesrs397517337
hgdprs397517337
ensemblrs397517337
geneviewrs397517337
scholarrs397517337
googlers397517337
pharmgkbrs397517337
gwascentralrs397517337
openSNPrs397517337
23andMers397517337
SNPshotrs397517337
SNPdbers397517337
MSV3drs397517337
GWAS Ctlgrs397517337
Max Magnitude0
ClinVar
Risk rs397517337(T;T)
Alt rs397517337(T;T)
Reference Rs397517337(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73539108C>T
CLNSRC ClinVar
CLNACC RCV000039207.2,