rs111033233

Orientation

plus

Stabilized

plus

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

Make rs111033233(G;T)

Make rs111033233(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

77181589

Gene

MYO7A

is a	snp
is	mentioned by
dbSNP	rs111033233
dbSNP (classic)	rs111033233
ClinGen	rs111033233
ebi	rs111033233
HLI	rs111033233
Exac	rs111033233
Gnomad	rs111033233
Varsome	rs111033233
LitVar	rs111033233
Map	rs111033233
PheGenI	rs111033233
Biobank	rs111033233
1000 genomes	rs111033233
hgdp	rs111033233
ensembl	rs111033233
geneview	rs111033233
scholar	rs111033233
google	rs111033233
pharmgkb	rs111033233
gwascentral	rs111033233
openSNP	rs111033233
23andMe	rs111033233
SNPshot	rs111033233
SNPdbe	rs111033233
MSV3d	rs111033233
GWAS Ctlg	rs111033233

Max Magnitude

0

ClinVar
Risk	rs111033233(A;A) rs111033233(T;T)
Alt	rs111033233(A;A) rs111033233(T;T)
Reference	Rs111033233(G;G)
Significance	Pathogenic
Disease	Usher syndrome not provided
Variation	info
Gene	MYO7A
CLNDBN	Usher syndrome, type 1 not provided
Reversed	0
HGVS	NC_000011.9:g.76892635G>A; NC_000011.9:g.76892635G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000215887.1, RCV000036100.2, RCV000414534.1,

[PMID 10930322] Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

[PMID 15660226] Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.