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rs111033181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033181(A;A)
Make rs111033181(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77156022
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033181
dbSNP (classic)rs111033181
ClinGenrs111033181
ebirs111033181
HLIrs111033181
Exacrs111033181
Gnomadrs111033181
Varsomers111033181
LitVarrs111033181
Maprs111033181
PheGenIrs111033181
Biobankrs111033181
1000 genomesrs111033181
hgdprs111033181
ensemblrs111033181
geneviewrs111033181
scholarrs111033181
googlers111033181
pharmgkbrs111033181
gwascentralrs111033181
openSNPrs111033181
23andMers111033181
SNPshotrs111033181
SNPdbers111033181
MSV3drs111033181
GWAS Ctlgrs111033181
Max Magnitude0
ClinVar
Risk rs111033181(A;A) rs111033181(C;C)
Alt rs111033181(A;A) rs111033181(C;C)
Reference Rs111033181(T;T)
Significance Probable-Pathogenic
Disease Usher syndrome not specified
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1 not specified
Reversed 0
HGVS NC_000011.9:g.76867068T>A; NC_000011.9:g.76867068T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000036134.2, RCV000331588.2,


[PMID 10930322] Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.