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rs111033473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033473(-;-)
Make rs111033473(-;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position71793340
GeneCDH23
is asnp
is mentioned by
dbSNPrs111033473
dbSNP (classic)rs111033473
ClinGenrs111033473
ebirs111033473
HLIrs111033473
Exacrs111033473
Gnomadrs111033473
Varsomers111033473
LitVarrs111033473
Maprs111033473
PheGenIrs111033473
Biobankrs111033473
1000 genomesrs111033473
hgdprs111033473
ensemblrs111033473
geneviewrs111033473
scholarrs111033473
googlers111033473
pharmgkbrs111033473
gwascentralrs111033473
openSNPrs111033473
23andMers111033473
SNPshotrs111033473
SNPdbers111033473
MSV3drs111033473
GWAS Ctlgrs111033473
Max Magnitude0
ClinVar
Risk rs111033473(-;-)
Alt rs111033473(-;-)
Reference Rs111033473(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73553097delG
CLNSRC ClinVar
CLNACC RCV000039244.2,