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rs111033259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGATCATG;AGATCATG) 0 common in clinvar
Make rs111033259(AGATCATG;CA)
Make rs111033259(CA;CA)
ReferenceGRCh38 38.1/141
Chromosome11
Position77198597
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033259
ebirs111033259
HLIrs111033259
Exacrs111033259
Varsomers111033259
Maprs111033259
PheGenIrs111033259
hapmaprs111033259
1000 genomesrs111033259
hgdprs111033259
ensemblrs111033259
gopubmedrs111033259
geneviewrs111033259
scholarrs111033259
googlers111033259
pharmgkbrs111033259
gwascentralrs111033259
openSNPrs111033259
23andMers111033259
23andMe allrs111033259
SNP Nexus

SNPshotrs111033259
SNPdbers111033259
MSV3drs111033259
GWAS Ctlgrs111033259
Max Magnitude0
ClinVar
Risk rs111033259(CA;CA)
Alt rs111033259(CA;CA)
Reference rs111033259(AGATCATG;AGATCATG)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76909642_76909649delAGATCATGinsCA
CLNSRC ClinVar
CLNACC RCV000036150.2,