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rs111033265

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033265(A;A)
Make rs111033265(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position215782058
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033265
dbSNP (classic)rs111033265
ClinGenrs111033265
ebirs111033265
HLIrs111033265
Exacrs111033265
Gnomadrs111033265
Varsomers111033265
LitVarrs111033265
Maprs111033265
PheGenIrs111033265
Biobankrs111033265
1000 genomesrs111033265
hgdprs111033265
ensemblrs111033265
geneviewrs111033265
scholarrs111033265
googlers111033265
pharmgkbrs111033265
gwascentralrs111033265
openSNPrs111033265
23andMers111033265
SNPshotrs111033265
SNPdbers111033265
MSV3drs111033265
GWAS Ctlgrs111033265
Max Magnitude0
ClinVar
Risk rs111033265(A;A)
Alt rs111033265(A;A)
Reference Rs111033265(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.215955400C>T
CLNSRC ClinVar
CLNACC RCV000041677.2,