rs111033272

minus

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

Make rs111033272(A;A)

Make rs111033272(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

216325499

Gene

USH2A

is a	snp
is	mentioned by
dbSNP	rs111033272
dbSNP (classic)	rs111033272
ClinGen	rs111033272
ebi	rs111033272
HLI	rs111033272
Exac	rs111033272
Gnomad	rs111033272
Varsome	rs111033272
LitVar	rs111033272
Map	rs111033272
PheGenI	rs111033272
Biobank	rs111033272
1000 genomes	rs111033272
hgdp	rs111033272
ensembl	rs111033272
geneview	rs111033272
scholar	rs111033272
google	rs111033272
pharmgkb	rs111033272
gwascentral	rs111033272
openSNP	rs111033272
23andMe	rs111033272
SNPshot	rs111033272
SNPdbe	rs111033272
MSV3d	rs111033272
GWAS Ctlg	rs111033272

Max Magnitude

0

ClinVar
Risk	rs111033272(A;A)
Alt	rs111033272(A;A)
Reference	Rs111033272(C;C)
Significance	Pathogenic
Disease	Usher syndrome Retinitis pigmentosa 39 not provided
Variation	info
Gene	USH2A
CLNDBN	Usher syndrome, type 2A Retinitis pigmentosa 39 not provided
Reversed	1
HGVS	NC_000001.10:g.216498841G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002452.5, RCV000323056.1, RCV000412796.1,

[PMID 15015129 ] Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

[PMID 15043528] Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

[PMID 15241801] USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

[PMID 15325563] Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

[PMID 18273898] Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.