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rs111033247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033247(A;A)
Make rs111033247(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position71790414
GeneCDH23
is asnp
is mentioned by
dbSNPrs111033247
ebirs111033247
HLIrs111033247
Exacrs111033247
Varsomers111033247
Maprs111033247
PheGenIrs111033247
hapmaprs111033247
1000 genomesrs111033247
hgdprs111033247
ensemblrs111033247
gopubmedrs111033247
geneviewrs111033247
scholarrs111033247
googlers111033247
pharmgkbrs111033247
gwascentralrs111033247
openSNPrs111033247
23andMers111033247
23andMe allrs111033247
SNP Nexus

SNPshotrs111033247
SNPdbers111033247
MSV3drs111033247
GWAS Ctlgrs111033247
Max Magnitude0
ClinVar
Risk rs111033247(A;A)
Alt rs111033247(A;A)
Reference rs111033247(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MIR7152 CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73550171G>A
CLNSRC ClinVar
CLNACC RCV000039234.2,


[PMID 11090341OA-icon.png] Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.