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rs587783009

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783009(A;A)
Make rs587783009(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position88118482
GeneCEP290
is asnp
is mentioned by
dbSNPrs587783009
ebirs587783009
HLIrs587783009
Exacrs587783009
Varsomers587783009
Maprs587783009
PheGenIrs587783009
hapmaprs587783009
1000 genomesrs587783009
hgdprs587783009
ensemblrs587783009
gopubmedrs587783009
geneviewrs587783009
scholarrs587783009
googlers587783009
pharmgkbrs587783009
gwascentralrs587783009
openSNPrs587783009
23andMers587783009
23andMe allrs587783009
SNP Nexus

SNPshotrs587783009
SNPdbers587783009
MSV3drs587783009
GWAS Ctlgrs587783009
Max Magnitude0
ClinVar
Risk rs587783009(A;A)
Alt rs587783009(A;A)
Reference rs587783009(G;G)
Significance Pathogenic
Disease Leber congenital amaurosis 10
Variation info
Gene CEP290
CLNDBN Leber congenital amaurosis 10
Reversed 1
HGVS NC_000012.11:g.88512259C>T
CLNSRC
CLNACC RCV000144459.1,