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rs28934610

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28934610(A;A)
Make rs28934610(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77156904
GeneMYO7A
is asnp
is mentioned by
dbSNPrs28934610
dbSNP (classic)rs28934610
ClinGenrs28934610
ebirs28934610
HLIrs28934610
Exacrs28934610
Gnomadrs28934610
Varsomers28934610
LitVarrs28934610
Maprs28934610
PheGenIrs28934610
Biobankrs28934610
1000 genomesrs28934610
hgdprs28934610
ensemblrs28934610
geneviewrs28934610
scholarrs28934610
googlers28934610
pharmgkbrs28934610
gwascentralrs28934610
openSNPrs28934610
23andMers28934610
SNPshotrs28934610
SNPdbers28934610
MSV3drs28934610
GWAS Ctlgrs28934610
Max Magnitude0
OMIM276903
DescUSHER SYNDROME, TYPE IB
Variant0004
Relatedalso


ClinVar
Risk rs28934610(A;A)
Alt rs28934610(A;A)
Reference Rs28934610(G;G)
Significance Pathogenic
Disease Usher syndrome Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1B Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76867950G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012624.25, RCV000036232.2,