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rs111033290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033290(A;A)
Make rs111033290(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77175465
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033290
ebirs111033290
HLIrs111033290
Exacrs111033290
Varsomers111033290
Maprs111033290
PheGenIrs111033290
hapmaprs111033290
1000 genomesrs111033290
hgdprs111033290
ensemblrs111033290
gopubmedrs111033290
geneviewrs111033290
scholarrs111033290
googlers111033290
pharmgkbrs111033290
gwascentralrs111033290
openSNPrs111033290
23andMers111033290
23andMe allrs111033290
SNP Nexus

SNPshotrs111033290
SNPdbers111033290
MSV3drs111033290
GWAS Ctlgrs111033290
Max Magnitude0
ClinVar
Risk rs111033290(A;A)
Alt rs111033290(A;A)
Reference rs111033290(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76886511G>A
CLNSRC ClinVar
CLNACC RCV000036079.2,


[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 15028842] The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.


[PMID 19074810] Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.