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rs111033219

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs111033219(-;-)
Make rs111033219(-;GCA)
Make rs111033219(GCA;GCA)
ReferenceGRCh38 38.1/141
Chromosome11
Position77162179
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033219
ebirs111033219
HLIrs111033219
Exacrs111033219
Varsomers111033219
Maprs111033219
PheGenIrs111033219
hapmaprs111033219
1000 genomesrs111033219
hgdprs111033219
ensemblrs111033219
gopubmedrs111033219
geneviewrs111033219
scholarrs111033219
googlers111033219
pharmgkbrs111033219
gwascentralrs111033219
openSNPrs111033219
23andMers111033219
23andMe allrs111033219
SNP Nexus

SNPshotrs111033219
SNPdbers111033219
MSV3drs111033219
GWAS Ctlgrs111033219
Max Magnitude0
ClinVar
Risk rs111033219(GCA;GCA)
Alt rs111033219(GCA;GCA)
Reference rs111033219(;)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76873223_76873225dupGCA
CLNSRC ClinVar
CLNACC RCV000036049.2,


[PMID 8900236OA-icon.png] Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.