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rs878853413

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853413(C;T)
Make rs878853413(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position215782170
GeneUSH2A
is asnp
is mentioned by
dbSNPrs878853413
dbSNP (classic)rs878853413
ClinGenrs878853413
ebirs878853413
HLIrs878853413
Exacrs878853413
Gnomadrs878853413
Varsomers878853413
LitVarrs878853413
Maprs878853413
PheGenIrs878853413
Biobankrs878853413
1000 genomesrs878853413
hgdprs878853413
ensemblrs878853413
geneviewrs878853413
scholarrs878853413
googlers878853413
pharmgkbrs878853413
gwascentralrs878853413
openSNPrs878853413
23andMers878853413
SNPshotrs878853413
SNPdbers878853413
MSV3drs878853413
GWAS Ctlgrs878853413
Max Magnitude0
ClinVar
Risk rs878853413(T;T)
Alt rs878853413(T;T)
Reference Rs878853413(C;C)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene USH2A
CLNDBN Retinal dystrophy
Reversed 1
HGVS NC_000001.10:g.215955512G>A
CLNSRC
CLNACC RCV000225445.1,