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rs587783017

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587783017(-;-)
Make rs587783017(-;A)
Make rs587783017(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position88055666
GeneCEP290, LOC105369883
is asnp
is mentioned by
dbSNPrs587783017
ebirs587783017
HLIrs587783017
Exacrs587783017
Varsomers587783017
Maprs587783017
PheGenIrs587783017
hapmaprs587783017
1000 genomesrs587783017
hgdprs587783017
ensemblrs587783017
gopubmedrs587783017
geneviewrs587783017
scholarrs587783017
googlers587783017
pharmgkbrs587783017
gwascentralrs587783017
openSNPrs587783017
23andMers587783017
23andMe allrs587783017
SNP Nexus

SNPshotrs587783017
SNPdbers587783017
MSV3drs587783017
GWAS Ctlgrs587783017
Max Magnitude0
ClinVar
Risk rs587783017(A;A)
Alt rs587783017(A;A)
Reference rs587783017(;)
Significance Pathogenic
Disease Leber congenital amaurosis 10
Variation info
Gene CEP290
CLNDBN Leber congenital amaurosis 10
Reversed 1
HGVS NC_000012.11:g.88449444dupT
CLNSRC
CLNACC RCV000144468.1,