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rs111033250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033250(A;A)
Make rs111033250(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77208697
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033250
dbSNP (classic)rs111033250
ClinGenrs111033250
ebirs111033250
HLIrs111033250
Exacrs111033250
Gnomadrs111033250
Varsomers111033250
LitVarrs111033250
Maprs111033250
PheGenIrs111033250
Biobankrs111033250
1000 genomesrs111033250
hgdprs111033250
ensemblrs111033250
geneviewrs111033250
scholarrs111033250
googlers111033250
pharmgkbrs111033250
gwascentralrs111033250
openSNPrs111033250
23andMers111033250
SNPshotrs111033250
SNPdbers111033250
MSV3drs111033250
GWAS Ctlgrs111033250
Max Magnitude0
ClinVar
Risk rs111033250(A;A)
Alt rs111033250(A;A)
Reference Rs111033250(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76919742G>A
CLNSRC ClinVar
CLNACC RCV000036215.2,