rs111033178

Orientation

plus

Stabilized

plus

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

Make rs111033178(A;A)

Make rs111033178(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

77190108

Gene

MYO7A

is a	snp
is	mentioned by
dbSNP	rs111033178
dbSNP (classic)	rs111033178
ClinGen	rs111033178
ebi	rs111033178
HLI	rs111033178
Exac	rs111033178
Gnomad	rs111033178
Varsome	rs111033178
LitVar	rs111033178
Map	rs111033178
PheGenI	rs111033178
Biobank	rs111033178
1000 genomes	rs111033178
hgdp	rs111033178
ensembl	rs111033178
geneview	rs111033178
scholar	rs111033178
google	rs111033178
pharmgkb	rs111033178
gwascentral	rs111033178
openSNP	rs111033178
23andMe	rs111033178
SNPshot	rs111033178
SNPdbe	rs111033178
MSV3d	rs111033178
GWAS Ctlg	rs111033178

Max Magnitude

0

ClinVar
Risk	rs111033178(A;A)
Alt	rs111033178(A;A)
Reference	Rs111033178(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.76901153G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000036122.3, RCV000256123.1,

[PMID 10094549] Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

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

[PMID 17361009] MYO7A mutation screening in Usher syndrome type I patients from diverse origins.