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rs111033201

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033201(C;T)
Make rs111033201(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77174825
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033201
ebirs111033201
HLIrs111033201
Exacrs111033201
Varsomers111033201
Maprs111033201
PheGenIrs111033201
hapmaprs111033201
1000 genomesrs111033201
hgdprs111033201
ensemblrs111033201
gopubmedrs111033201
geneviewrs111033201
scholarrs111033201
googlers111033201
pharmgkbrs111033201
gwascentralrs111033201
openSNPrs111033201
23andMers111033201
23andMe allrs111033201
SNP Nexus

SNPshotrs111033201
SNPdbers111033201
MSV3drs111033201
GWAS Ctlgrs111033201
Max Magnitude0
ClinVar
Risk rs111033201(A,T;A,T)
Alt rs111033201(A,T;A,T)
Reference rs111033201(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76885871C>T
CLNSRC ClinVar
CLNACC RCV000036073.2,


[PMID 9718356OA-icon.png] Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.