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rs111033232

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
Make rs111033232(-;-)
Make rs111033232(-;CTT)
ReferenceGRCh38 38.1/141
Chromosome11
Position77208459
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033232
ebirs111033232
HLIrs111033232
Exacrs111033232
Varsomers111033232
Maprs111033232
PheGenIrs111033232
hapmaprs111033232
1000 genomesrs111033232
hgdprs111033232
ensemblrs111033232
gopubmedrs111033232
geneviewrs111033232
scholarrs111033232
googlers111033232
pharmgkbrs111033232
gwascentralrs111033232
openSNPrs111033232
23andMers111033232
23andMe allrs111033232
SNP Nexus

SNPshotrs111033232
SNPdbers111033232
MSV3drs111033232
GWAS Ctlgrs111033232
Max Magnitude0
ClinVar
Risk rs111033232(;)
Alt rs111033232(;)
Reference rs111033232(CTT;CTT)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76919504_76919506delCTT
CLNSRC ClinVar
CLNACC RCV000036213.2,


[PMID 16679490OA-icon.png] Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.