rs111033415

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of an Usher syndrome type 1B mutation

Make rs111033415(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

77162118

Gene

MYO7A

is a	snp
is	mentioned by
dbSNP	rs111033415
dbSNP (classic)	rs111033415
ClinGen	rs111033415
ebi	rs111033415
HLI	rs111033415
Exac	rs111033415
Gnomad	rs111033415
Varsome	rs111033415
LitVar	rs111033415
Map	rs111033415
PheGenI	rs111033415
Biobank	rs111033415
1000 genomes	rs111033415
hgdp	rs111033415
ensembl	rs111033415
geneview	rs111033415
scholar	rs111033415
google	rs111033415
pharmgkb	rs111033415
gwascentral	rs111033415
openSNP	rs111033415
23andMe	rs111033415
SNPshot	rs111033415
SNPdbe	rs111033415
MSV3d	rs111033415
GWAS Ctlg	rs111033415

Max Magnitude

3

aka c.1344-2A>G

ClinVar
Risk	rs111033415(G;G)
Alt	rs111033415(G;G)
Reference	Rs111033415(A;A)
Significance	Pathogenic
Disease	Usher syndrome
Variation	info
Gene	MYO7A
CLNDBN	Usher syndrome, type 1
Reversed	0
HGVS	NC_000011.9:g.76873164A>G
CLNSRC	ClinVar
CLNACC	RCV000036047.2,