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rs397517367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAAT;CAAT) 0 common in clinvar
(TCAA;TCAA) 0 common in clinvar
Make rs397517367(-;-)
Make rs397517367(-;TCAA)
ReferenceGRCh38 38.1/141
Chromosome10
Position71812886
GeneCDH23
is asnp
is mentioned by
dbSNPrs397517367
ebirs397517367
HLIrs397517367
Exacrs397517367
Varsomers397517367
Maprs397517367
PheGenIrs397517367
hapmaprs397517367
1000 genomesrs397517367
hgdprs397517367
ensemblrs397517367
gopubmedrs397517367
geneviewrs397517367
scholarrs397517367
googlers397517367
pharmgkbrs397517367
gwascentralrs397517367
openSNPrs397517367
23andMers397517367
23andMe allrs397517367
SNP Nexus

SNPshotrs397517367
SNPdbers397517367
MSV3drs397517367
GWAS Ctlgrs397517367
Max Magnitude0
ClinVar
Risk rs397517367(;)
Alt rs397517367(;)
Reference rs397517367(CAAT;CAAT)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73572643_73572646delTCAA
CLNSRC ClinVar
CLNACC RCV000039314.2,