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rs111033347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033347(-;-)
Make rs111033347(-;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position77190710
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033347
ebirs111033347
HLIrs111033347
Exacrs111033347
Varsomers111033347
Maprs111033347
PheGenIrs111033347
hapmaprs111033347
1000 genomesrs111033347
hgdprs111033347
ensemblrs111033347
gopubmedrs111033347
geneviewrs111033347
scholarrs111033347
googlers111033347
pharmgkbrs111033347
gwascentralrs111033347
openSNPrs111033347
23andMers111033347
23andMe allrs111033347
SNP Nexus

SNPshotrs111033347
SNPdbers111033347
MSV3drs111033347
GWAS Ctlgrs111033347
Max Magnitude0
ClinVar
Risk rs111033347(;)
Alt rs111033347(;)
Reference rs111033347(A;A)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76901755delA
CLNSRC ClinVar
CLNACC RCV000036127.2,


[PMID 17361009OA-icon.png] MYO7A mutation screening in Usher syndrome type I patients from diverse origins.