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rs397516308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516308(A;A)
Make rs397516308(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77194494
GeneMYO7A
is asnp
is mentioned by
dbSNPrs397516308
dbSNP (classic)rs397516308
ClinGenrs397516308
ebirs397516308
HLIrs397516308
Exacrs397516308
Gnomadrs397516308
Varsomers397516308
LitVarrs397516308
Maprs397516308
PheGenIrs397516308
Biobankrs397516308
1000 genomesrs397516308
hgdprs397516308
ensemblrs397516308
geneviewrs397516308
scholarrs397516308
googlers397516308
pharmgkbrs397516308
gwascentralrs397516308
openSNPrs397516308
23andMers397516308
SNPshotrs397516308
SNPdbers397516308
MSV3drs397516308
GWAS Ctlgrs397516308
Max Magnitude0
ClinVar
Risk rs397516308(A;A)
Alt rs397516308(A;A)
Reference Rs397516308(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76905539G>A
CLNSRC ClinVar
CLNACC RCV000036140.3,