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rs111033385

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033385(A;A)
Make rs111033385(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position215674781
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033385
ebirs111033385
HLIrs111033385
Exacrs111033385
Varsomers111033385
Maprs111033385
PheGenIrs111033385
hapmaprs111033385
1000 genomesrs111033385
hgdprs111033385
ensemblrs111033385
gopubmedrs111033385
geneviewrs111033385
scholarrs111033385
googlers111033385
pharmgkbrs111033385
gwascentralrs111033385
openSNPrs111033385
23andMers111033385
23andMe allrs111033385
SNP Nexus

SNPshotrs111033385
SNPdbers111033385
MSV3drs111033385
GWAS Ctlgrs111033385
Max Magnitude0
ClinVar
Risk rs111033385(A;A)
Alt rs111033385(A;A)
Reference rs111033385(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215848123G>T
CLNSRC ClinVar
CLNACC RCV000041735.2,