rs111033270

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs111033270(A;A)

Make rs111033270(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

71779316

Gene

CDH23

is a	snp
is	mentioned by
dbSNP	rs111033270
dbSNP (classic)	rs111033270
ClinGen	rs111033270
ebi	rs111033270
HLI	rs111033270
Exac	rs111033270
Gnomad	rs111033270
Varsome	rs111033270
LitVar	rs111033270
Map	rs111033270
PheGenI	rs111033270
Biobank	rs111033270
1000 genomes	rs111033270
hgdp	rs111033270
ensembl	rs111033270
geneview	rs111033270
scholar	rs111033270
google	rs111033270
pharmgkb	rs111033270
gwascentral	rs111033270
openSNP	rs111033270
23andMe	rs111033270
SNPshot	rs111033270
SNPdbe	rs111033270
MSV3d	rs111033270
GWAS Ctlg	rs111033270

Max Magnitude

0

OMIM	605516
Desc
Variant	0002
Related	also

ClinVar
Risk	rs111033270(A;A)
Alt	rs111033270(A;A)
Reference	Rs111033270(G;G)
Significance	Pathogenic
Disease	Usher syndrome not provided CDH23-Related Disorders
Variation	info
Gene	CDH23
CLNDBN	Usher syndrome, type 1D not provided CDH23-Related Disorders
Reversed	0
HGVS	NC_000010.10:g.73539073G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005198.5, RCV000254732.2, RCV000405146.1,

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

[PMID 12075507] 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.