Rs111033270

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033270(A;A)
Make rs111033270(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position71779316
GeneCDH23
is asnp
is mentioned by
dbSNPrs111033270
PheGenIrs111033270
nextbiors111033270
hapmaprs111033270
1000 genomesrs111033270
hgdprs111033270
ensemblrs111033270
gopubmedrs111033270
geneviewrs111033270
scholarrs111033270
googlers111033270
pharmgkbrs111033270
gwascentralrs111033270
openSNPrs111033270
23andMers111033270
23andMe allrs111033270
SNP Nexus

SNPshotrs111033270
SNPdbers111033270
MSV3drs111033270
Max Magnitude0
OMIM605516
Desc
Variant0002
Relatedalso
ClinVar
Risk rs111033270(A;A)
Alt rs111033270(A;A)
Reference rs111033270(G;G)
Significance Pathogenic
Disease Usher syndrome Hereditary hearing loss and deafness Retinitis pigmentosa-deafness syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1D Hereditary hearing loss and deafness Retinitis pigmentosa-deafness syndrome
Reversed 0
HGVS NC_000010.10:g.73539073G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005198.1, RCV000039205.1,


[PMID 11138009] Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

[PMID 12075507OA-icon.png] CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

[PMID 18273900] Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.