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rs111033418

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033418(C;T)
Make rs111033418(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position215780023
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033418
ebirs111033418
HLIrs111033418
Exacrs111033418
Varsomers111033418
Maprs111033418
PheGenIrs111033418
hapmaprs111033418
1000 genomesrs111033418
hgdprs111033418
ensemblrs111033418
gopubmedrs111033418
geneviewrs111033418
scholarrs111033418
googlers111033418
pharmgkbrs111033418
gwascentralrs111033418
openSNPrs111033418
23andMers111033418
23andMe allrs111033418
SNP Nexus

SNPshotrs111033418
SNPdbers111033418
MSV3drs111033418
GWAS Ctlgrs111033418
Max Magnitude0
ClinVar
Risk rs111033418(T;T)
Alt rs111033418(T;T)
Reference rs111033418(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215953365G>A
CLNSRC ClinVar
CLNACC RCV000041678.2,