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rs397516290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397516290(-;CAGCCA)
Make rs397516290(CAGCCA;CAGCCA)
ReferenceGRCh38 38.1/141
Chromosome11
Position77172788
GeneMYO7A
is asnp
is mentioned by
dbSNPrs397516290
dbSNP (classic)rs397516290
ClinGenrs397516290
ebirs397516290
HLIrs397516290
Exacrs397516290
Gnomadrs397516290
Varsomers397516290
LitVarrs397516290
Maprs397516290
PheGenIrs397516290
Biobankrs397516290
1000 genomesrs397516290
hgdprs397516290
ensemblrs397516290
geneviewrs397516290
scholarrs397516290
googlers397516290
pharmgkbrs397516290
gwascentralrs397516290
openSNPrs397516290
23andMers397516290
SNPshotrs397516290
SNPdbers397516290
MSV3drs397516290
GWAS Ctlgrs397516290
Max Magnitude0
ClinVar
Risk rs397516290(CAGCCA;CAGCCA)
Alt rs397516290(CAGCCA;CAGCCA)
Reference Rs397516290(-;-)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76883829_76883834dupCAGCCA
CLNSRC ClinVar
CLNACC RCV000036063.2,