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rs111033283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033283(A;A)
Make rs111033283(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77156909
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033283
ebirs111033283
HLIrs111033283
Exacrs111033283
Varsomers111033283
Maprs111033283
PheGenIrs111033283
hapmaprs111033283
1000 genomesrs111033283
hgdprs111033283
ensemblrs111033283
gopubmedrs111033283
geneviewrs111033283
scholarrs111033283
googlers111033283
pharmgkbrs111033283
gwascentralrs111033283
openSNPrs111033283
23andMers111033283
23andMe allrs111033283
SNP Nexus

SNPshotrs111033283
SNPdbers111033283
MSV3drs111033283
GWAS Ctlgrs111033283
Max Magnitude0
ClinVar
Risk rs111033283(A;A)
Alt rs111033283(A;A)
Reference rs111033283(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76867955G>A
CLNSRC ClinVar
CLNACC RCV000036233.3,


[PMID 9382091OA-icon.png] Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.


[PMID 16470552] Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.


[PMID 18181211] Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.