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Rs111033271

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Orientationplus
is asnp
is mentioned by
dbSNPrs111033271
PheGenIrs111033271
nextbiors111033271
hapmaprs111033271
1000 genomesrs111033271
hgdprs111033271
ensemblrs111033271
gopubmedrs111033271
geneviewrs111033271
scholarrs111033271
googlers111033271
pharmgkbrs111033271
gwascentralrs111033271
openSNPrs111033271
23andMers111033271
23andMe allrs111033271
SNP Nexus

SNPshotrs111033271
SNPdbers111033271
MSV3drs111033271
GeneCDH23
Chromosome10
Orientationplus
Position71793370
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033271(A;A)
Make rs111033271(A;G)
OMIM605516
Desc
Variant0008
Relatedalso
ClinVar
Risk rs111033271(A;A)
Alt rs111033271(A;A)
Reference rs111033271(G;G)
Significance 5
Disease Deafness, Hereditary hearing loss and deafness, Retinitis pigmentosa-deafness syndrome
ClinVar info
Gene CDH23
CLNDBN Deafness, autosomal recessive 12, Hereditary hearing loss and deafness, Retinitis pigmentosa-deafness syndrome
Reversed 0
CLNHGVS NC_000010.10:g.73553127G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005204.1, RCV000039246.1


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

[PMID 12522556] Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

[PMID 15353998] Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).