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rs41281314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs41281314(A;G)
Make rs41281314(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position71730514
GeneCDH23, C10orf105
is asnp
is mentioned by
dbSNPrs41281314
ebirs41281314
HLIrs41281314
Exacrs41281314
Varsomers41281314
Maprs41281314
PheGenIrs41281314
hapmaprs41281314
1000 genomesrs41281314
hgdprs41281314
ensemblrs41281314
gopubmedrs41281314
geneviewrs41281314
scholarrs41281314
googlers41281314
pharmgkbrs41281314
gwascentralrs41281314
openSNPrs41281314
23andMers41281314
23andMe allrs41281314
SNP Nexus

SNPshotrs41281314
SNPdbers41281314
MSV3drs41281314
GWAS Ctlgrs41281314
GMAF0.03489
Max Magnitude0
OMIM605516
Desc
Variant0013
Relatedalso
ClinVar
Risk rs41281314(G;G)
Alt rs41281314(G;G)
Reference rs41281314(A;A)
Significance Pathogenic
Disease Usher syndrome not specified not provided Usher syndrome
Variation info
Gene C10orf105 CDH23
CLNDBN Usher syndrome, type 1D not specified not provided Usher syndrome, type 1
Reversed 0
HGVS NC_000010.10:g.73490271A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005210.2, RCV000039159.2, RCV000086973.1, RCV000217147.1,


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


[PMID 15537665OA-icon.png] Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.


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

GET Evidence
CDH23-T1207A
aa_change Thr1207Ala
aa_change_short T1207A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.047304
summary