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rs397517313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397517313(-;-)
Make rs397517313(-;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71687672
GeneCDH23
is asnp
is mentioned by
dbSNPrs397517313
ebirs397517313
HLIrs397517313
Exacrs397517313
Varsomers397517313
Maprs397517313
PheGenIrs397517313
hapmaprs397517313
1000 genomesrs397517313
hgdprs397517313
ensemblrs397517313
gopubmedrs397517313
geneviewrs397517313
scholarrs397517313
googlers397517313
pharmgkbrs397517313
gwascentralrs397517313
openSNPrs397517313
23andMers397517313
23andMe allrs397517313
SNP Nexus

SNPshotrs397517313
SNPdbers397517313
MSV3drs397517313
GWAS Ctlgrs397517313
Max Magnitude0
ClinVar
Risk rs397517313(;)
Alt rs397517313(;)
Reference rs397517313(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73447429delT
CLNSRC ClinVar
CLNACC RCV000039119.2,