rs111033180

Orientation

plus

Stabilized

plus

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

Make rs111033180(C;T)

Make rs111033180(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

77172850

Gene

MYO7A

is a	snp
is	mentioned by
dbSNP	rs111033180
dbSNP (classic)	rs111033180
ClinGen	rs111033180
ebi	rs111033180
HLI	rs111033180
Exac	rs111033180
Gnomad	rs111033180
Varsome	rs111033180
LitVar	rs111033180
Map	rs111033180
PheGenI	rs111033180
Biobank	rs111033180
1000 genomes	rs111033180
hgdp	rs111033180
ensembl	rs111033180
geneview	rs111033180
scholar	rs111033180
google	rs111033180
pharmgkb	rs111033180
gwascentral	rs111033180
openSNP	rs111033180
23andMe	rs111033180
SNPshot	rs111033180
SNPdbe	rs111033180
MSV3d	rs111033180
GWAS Ctlg	rs111033180

Max Magnitude

0

ClinVar
Risk	rs111033180(T;T)
Alt	rs111033180(T;T)
Reference	Rs111033180(C;C)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	MYO7A
CLNDBN	Usher syndrome, type 1
Reversed	0
HGVS	NC_000011.9:g.76883896C>T
CLNSRC	ClinVar
CLNACC	RCV000036068.2,

[PMID 9718356] Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.