rs41282932

Orientation

plus

Stabilized

plus

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

Make rs41282932(C;C)

Make rs41282932(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17509546

Gene

USH1C

is a	snp
is	mentioned by
dbSNP	rs41282932
dbSNP (classic)	rs41282932
ClinGen	rs41282932
ebi	rs41282932
HLI	rs41282932
Exac	rs41282932
Gnomad	rs41282932
Varsome	rs41282932
LitVar	rs41282932
Map	rs41282932
PheGenI	rs41282932
Biobank	rs41282932
1000 genomes	rs41282932
hgdp	rs41282932
ensembl	rs41282932
geneview	rs41282932
scholar	rs41282932
google	rs41282932
pharmgkb	rs41282932
gwascentral	rs41282932
openSNP	rs41282932
23andMe	rs41282932
SNPshot	rs41282932
SNPdbe	rs41282932
MSV3d	rs41282932
GWAS Ctlg	rs41282932

Max Magnitude

0

OMIM	605242
Desc
Variant	0009
Related	also

ClinVar
Risk	rs41282932(A;A) rs41282932(C;C)
Alt	rs41282932(A;A) rs41282932(C;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 16963483] Development of a genotyping microarray for Usher syndrome.