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rs397517350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397517350(-;-)
Make rs397517350(-;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position71798492
GeneCDH23
is asnp
is mentioned by
dbSNPrs397517350
ebirs397517350
HLIrs397517350
Exacrs397517350
Varsomers397517350
Maprs397517350
PheGenIrs397517350
hapmaprs397517350
1000 genomesrs397517350
hgdprs397517350
ensemblrs397517350
gopubmedrs397517350
geneviewrs397517350
scholarrs397517350
googlers397517350
pharmgkbrs397517350
gwascentralrs397517350
openSNPrs397517350
23andMers397517350
23andMe allrs397517350
SNP Nexus

SNPshotrs397517350
SNPdbers397517350
MSV3drs397517350
GWAS Ctlgrs397517350
Max Magnitude0
ClinVar
Risk rs397517350(;)
Alt rs397517350(;)
Reference rs397517350(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73558249delC
CLNSRC ClinVar
CLNACC RCV000039259.2,