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rs878853362

From SNPedia

Orientationminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs878853362(-;-)
Make rs878853362(-;AT)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position88093897
GeneCEP290
is asnp
is mentioned by
dbSNPrs878853362
ebirs878853362
HLIrs878853362
Exacrs878853362
Varsomers878853362
Maprs878853362
PheGenIrs878853362
hapmaprs878853362
1000 genomesrs878853362
hgdprs878853362
ensemblrs878853362
gopubmedrs878853362
geneviewrs878853362
scholarrs878853362
googlers878853362
pharmgkbrs878853362
gwascentralrs878853362
openSNPrs878853362
23andMers878853362
23andMe allrs878853362
SNP Nexus

SNPshotrs878853362
SNPdbers878853362
MSV3drs878853362
GWAS Ctlgrs878853362
Max Magnitude0
ClinVar
Risk rs878853362(;)
Alt rs878853362(;)
Reference rs878853362(AT;AT)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene CEP290
CLNDBN Retinal dystrophy
Reversed 1
HGVS NC_000012.11:g.88487674_88487675delAT
CLNSRC
CLNACC RCV000225531.1,