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rs111033178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033178(A;A)
Make rs111033178(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77190108
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033178
ebirs111033178
HLIrs111033178
Exacrs111033178
Varsomers111033178
Maprs111033178
PheGenIrs111033178
hapmaprs111033178
1000 genomesrs111033178
hgdprs111033178
ensemblrs111033178
gopubmedrs111033178
geneviewrs111033178
scholarrs111033178
googlers111033178
pharmgkbrs111033178
gwascentralrs111033178
openSNPrs111033178
23andMers111033178
23andMe allrs111033178
SNP Nexus

SNPshotrs111033178
SNPdbers111033178
MSV3drs111033178
GWAS Ctlgrs111033178
Max Magnitude0
ClinVar
Risk rs111033178(A;A)
Alt rs111033178(A;A)
Reference rs111033178(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76901153G>A
CLNSRC ClinVar
CLNACC RCV000036122.3,


[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 17361009OA-icon.png] MYO7A mutation screening in Usher syndrome type I patients from diverse origins.