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rs111033233

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033233(G;T)
Make rs111033233(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77181589
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033233
ebirs111033233
HLIrs111033233
Exacrs111033233
Varsomers111033233
Maprs111033233
PheGenIrs111033233
hapmaprs111033233
1000 genomesrs111033233
hgdprs111033233
ensemblrs111033233
gopubmedrs111033233
geneviewrs111033233
scholarrs111033233
googlers111033233
pharmgkbrs111033233
gwascentralrs111033233
openSNPrs111033233
23andMers111033233
23andMe allrs111033233
SNP Nexus

SNPshotrs111033233
SNPdbers111033233
MSV3drs111033233
GWAS Ctlgrs111033233
Max Magnitude0
ClinVar
Risk rs111033233(A,T;A,T)
Alt rs111033233(A,T;A,T)
Reference rs111033233(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76892635G>A; NC_000011.9:g.76892635G>T
CLNSRC ClinVar
CLNACC RCV000215887.1, RCV000036100.2,


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


[PMID 15660226] Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.