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rs878853414

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853414(-;-)
Make rs878853414(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position216000418
GeneUSH2A
is asnp
is mentioned by
dbSNPrs878853414
dbSNP (classic)rs878853414
ClinGenrs878853414
ebirs878853414
HLIrs878853414
Exacrs878853414
Gnomadrs878853414
Varsomers878853414
LitVarrs878853414
Maprs878853414
PheGenIrs878853414
Biobankrs878853414
1000 genomesrs878853414
hgdprs878853414
ensemblrs878853414
geneviewrs878853414
scholarrs878853414
googlers878853414
pharmgkbrs878853414
gwascentralrs878853414
openSNPrs878853414
23andMers878853414
SNPshotrs878853414
SNPdbers878853414
MSV3drs878853414
GWAS Ctlgrs878853414
Max Magnitude0
ClinVar
Risk rs878853414(-;-)
Alt rs878853414(-;-)
Reference Rs878853414(G;G)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene USH2A
CLNDBN Retinal dystrophy
Reversed 1
HGVS NC_000001.10:g.216173760delC
CLNSRC
CLNACC RCV000225641.1,