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rs111033268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATCTATTCAGGCAG;ATCTATTCAGGCAG) 0 common in clinvar
Make rs111033268(-;-)
Make rs111033268(-;ATCTATTCAGGCAG)
ReferenceGRCh38 38.1/141
Chromosome1
Position216046454
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033268
ebirs111033268
HLIrs111033268
Exacrs111033268
Varsomers111033268
Maprs111033268
PheGenIrs111033268
hapmaprs111033268
1000 genomesrs111033268
hgdprs111033268
ensemblrs111033268
gopubmedrs111033268
geneviewrs111033268
scholarrs111033268
googlers111033268
pharmgkbrs111033268
gwascentralrs111033268
openSNPrs111033268
23andMers111033268
23andMe allrs111033268
SNP Nexus

SNPshotrs111033268
SNPdbers111033268
MSV3drs111033268
GWAS Ctlgrs111033268
Max Magnitude0
ClinVar
Risk rs111033268(;)
Alt rs111033268(;)
Reference rs111033268(ATCTATTCAGGCAG;ATCTATTCAGGCAG)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216219796_216219809delCTGCCTGAATAGAT
CLNSRC ClinVar
CLNACC RCV000041884.2,