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rs111033285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033285(G;G)
Make rs111033285(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77158426
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033285
dbSNP (classic)rs111033285
ClinGenrs111033285
ebirs111033285
HLIrs111033285
Exacrs111033285
Gnomadrs111033285
Varsomers111033285
LitVarrs111033285
Maprs111033285
PheGenIrs111033285
Biobankrs111033285
1000 genomesrs111033285
hgdprs111033285
ensemblrs111033285
geneviewrs111033285
scholarrs111033285
googlers111033285
pharmgkbrs111033285
gwascentralrs111033285
openSNPrs111033285
23andMers111033285
SNPshotrs111033285
SNPdbers111033285
MSV3drs111033285
GWAS Ctlgrs111033285
Max Magnitude0
ClinVar
Risk rs111033285(G;G)
Alt rs111033285(G;G)
Reference Rs111033285(T;T)
Significance Pathogenic
Disease Usher syndrome not provided
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1 not provided
Reversed 0
HGVS NC_000011.9:g.76869472T>G
CLNSRC ClinVar
CLNACC RCV000036253.2, RCV000421042.1,


[PMID 8900236OA-icon.png] Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.