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rs111033174

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033174(C;T)
Make rs111033174(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77156683
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033174
ebirs111033174
HLIrs111033174
Exacrs111033174
Varsomers111033174
Maprs111033174
PheGenIrs111033174
hapmaprs111033174
1000 genomesrs111033174
hgdprs111033174
ensemblrs111033174
gopubmedrs111033174
geneviewrs111033174
scholarrs111033174
googlers111033174
pharmgkbrs111033174
gwascentralrs111033174
openSNPrs111033174
23andMers111033174
23andMe allrs111033174
SNP Nexus

SNPshotrs111033174
SNPdbers111033174
MSV3drs111033174
GWAS Ctlgrs111033174
Max Magnitude0
ClinVar
Risk rs111033174(T;T)
Alt rs111033174(T;T)
Reference rs111033174(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76867729C>T
CLNSRC ClinVar
CLNACC RCV000036169.2,


[PMID 15660226] Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.