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rs41282932

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41282932(C;C)
Make rs41282932(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17509546
GeneUSH1C
is asnp
is mentioned by
dbSNPrs41282932
ebirs41282932
HLIrs41282932
Exacrs41282932
Varsomers41282932
Maprs41282932
PheGenIrs41282932
hapmaprs41282932
1000 genomesrs41282932
hgdprs41282932
ensemblrs41282932
gopubmedrs41282932
geneviewrs41282932
scholarrs41282932
googlers41282932
pharmgkbrs41282932
gwascentralrs41282932
openSNPrs41282932
23andMers41282932
23andMe allrs41282932
SNP Nexus

SNPshotrs41282932
SNPdbers41282932
MSV3drs41282932
GWAS Ctlgrs41282932
Max Magnitude0
OMIM605242
Desc
Variant0009
Relatedalso


ClinVar
Risk rs41282932(A,C;A,C)
Alt rs41282932(A,C;A,C)
Reference rs41282932(G;G)
Significance Pathogenic
Disease Deafness not specified
Variation info
Gene USH1C
CLNDBN Deafness, autosomal recessive 18 not specified
Reversed 0
HGVS NC_000011.9:g.17531093G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005455.3, RCV000041259.3,



[PMID 12136232] Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.


[PMID 16963483OA-icon.png] Development of a genotyping microarray for Usher syndrome.