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rs111033206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033206(A;A)
Make rs111033206(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77162854
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033206
dbSNP (classic)rs111033206
ClinGenrs111033206
ebirs111033206
HLIrs111033206
Exacrs111033206
Gnomadrs111033206
Varsomers111033206
LitVarrs111033206
Maprs111033206
PheGenIrs111033206
Biobankrs111033206
1000 genomesrs111033206
hgdprs111033206
ensemblrs111033206
geneviewrs111033206
scholarrs111033206
googlers111033206
pharmgkbrs111033206
gwascentralrs111033206
openSNPrs111033206
23andMers111033206
SNPshotrs111033206
SNPdbers111033206
MSV3drs111033206
GWAS Ctlgrs111033206
Max Magnitude0
ClinVar
Risk rs111033206(A;A)
Alt rs111033206(A;A)
Reference Rs111033206(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76873900G>A; NC_000011.9:g.76873900delG
CLNSRC UniProtKB (protein)
CLNACC RCV000036055.3, RCV000036056.2,


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