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rs111033286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033286(C;T)
Make rs111033286(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77162146
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033286
ebirs111033286
HLIrs111033286
Exacrs111033286
Varsomers111033286
Maprs111033286
PheGenIrs111033286
hapmaprs111033286
1000 genomesrs111033286
hgdprs111033286
ensemblrs111033286
gopubmedrs111033286
geneviewrs111033286
scholarrs111033286
googlers111033286
pharmgkbrs111033286
gwascentralrs111033286
openSNPrs111033286
23andMers111033286
23andMe allrs111033286
SNP Nexus

SNPshotrs111033286
SNPdbers111033286
MSV3drs111033286
GWAS Ctlgrs111033286
Max Magnitude0
ClinVar
Risk rs111033286(T;T)
Alt rs111033286(T;T)
Reference rs111033286(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76873192C>T
CLNSRC ClinVar
CLNACC RCV000036048.2,


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


[PMID 16963483OA-icon.png] Development of a genotyping microarray for Usher syndrome.


[PMID 17407589OA-icon.png] Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.