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rs397517362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397517362(A;A)
Make rs397517362(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position71809878
GeneCDH23
is asnp
is mentioned by
dbSNPrs397517362
dbSNP (classic)rs397517362
ClinGenrs397517362
ebirs397517362
HLIrs397517362
Exacrs397517362
Gnomadrs397517362
Varsomers397517362
LitVarrs397517362
Maprs397517362
PheGenIrs397517362
Biobankrs397517362
1000 genomesrs397517362
hgdprs397517362
ensemblrs397517362
geneviewrs397517362
scholarrs397517362
googlers397517362
pharmgkbrs397517362
gwascentralrs397517362
openSNPrs397517362
23andMers397517362
SNPshotrs397517362
SNPdbers397517362
MSV3drs397517362
GWAS Ctlgrs397517362
Max Magnitude0
ClinVar
Risk rs397517362(A;A)
Alt rs397517362(A;A)
Reference Rs397517362(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73569635C>A
CLNSRC ClinVar
CLNACC RCV000039289.2,