rs111033214

Orientation

plus

Stabilized

plus

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

Make rs111033214(A;A)

Make rs111033214(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

77189348

Gene

MYO7A

is a	snp
is	mentioned by
dbSNP	rs111033214
dbSNP (classic)	rs111033214
ClinGen	rs111033214
ebi	rs111033214
HLI	rs111033214
Exac	rs111033214
Gnomad	rs111033214
Varsome	rs111033214
LitVar	rs111033214
Map	rs111033214
PheGenI	rs111033214
Biobank	rs111033214
1000 genomes	rs111033214
hgdp	rs111033214
ensembl	rs111033214
geneview	rs111033214
scholar	rs111033214
google	rs111033214
pharmgkb	rs111033214
gwascentral	rs111033214
openSNP	rs111033214
23andMe	rs111033214
SNPshot	rs111033214
SNPdbe	rs111033214
MSV3d	rs111033214
GWAS Ctlg	rs111033214

Max Magnitude

0

ClinVar
Risk	rs111033214(A;A)
Alt	rs111033214(A;A)
Reference	Rs111033214(G;G)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	MYO7A
CLNDBN	Usher syndrome, type 1
Reversed	0
HGVS	NC_000011.9:g.76900393G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000036112.2,

[PMID 10425080] Identification of three novel mutations in the MYO7A gene

[PMID 12112664] Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.