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rs111033180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033180(C;T)
Make rs111033180(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77172850
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033180
ebirs111033180
HLIrs111033180
Exacrs111033180
Varsomers111033180
Maprs111033180
PheGenIrs111033180
hapmaprs111033180
1000 genomesrs111033180
hgdprs111033180
ensemblrs111033180
gopubmedrs111033180
geneviewrs111033180
scholarrs111033180
googlers111033180
pharmgkbrs111033180
gwascentralrs111033180
openSNPrs111033180
23andMers111033180
23andMe allrs111033180
SNP Nexus

SNPshotrs111033180
SNPdbers111033180
MSV3drs111033180
GWAS Ctlgrs111033180
Max Magnitude0
ClinVar
Risk rs111033180(T;T)
Alt rs111033180(T;T)
Reference rs111033180(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76883896C>T
CLNSRC ClinVar
CLNACC RCV000036068.2,


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