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rs111033214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033214(A;A)
Make rs111033214(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77189348
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033214
ebirs111033214
HLIrs111033214
Exacrs111033214
Varsomers111033214
Maprs111033214
PheGenIrs111033214
hapmaprs111033214
1000 genomesrs111033214
hgdprs111033214
ensemblrs111033214
gopubmedrs111033214
geneviewrs111033214
scholarrs111033214
googlers111033214
pharmgkbrs111033214
gwascentralrs111033214
openSNPrs111033214
23andMers111033214
23andMe allrs111033214
SNP Nexus

SNPshotrs111033214
SNPdbers111033214
MSV3drs111033214
GWAS Ctlgrs111033214
Max Magnitude0
ClinVar
Risk rs111033214(A;A)
Alt rs111033214(A;A)
Reference rs111033214(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76900393G>A
CLNSRC ClinVar
CLNACC RCV000036112.2,


[PMID 10425080] Identification of three novel mutations in the MYO7A gene


[PMID 12112664] Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.