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rs587783016

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783016(C;T)
Make rs587783016(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position88089157
GeneCEP290
is asnp
is mentioned by
dbSNPrs587783016
ebirs587783016
HLIrs587783016
Exacrs587783016
Varsomers587783016
Maprs587783016
PheGenIrs587783016
hapmaprs587783016
1000 genomesrs587783016
hgdprs587783016
ensemblrs587783016
gopubmedrs587783016
geneviewrs587783016
scholarrs587783016
googlers587783016
pharmgkbrs587783016
gwascentralrs587783016
openSNPrs587783016
23andMers587783016
23andMe allrs587783016
SNP Nexus

SNPshotrs587783016
SNPdbers587783016
MSV3drs587783016
GWAS Ctlgrs587783016
Max Magnitude0
ClinVar
Risk rs587783016(T;T)
Alt rs587783016(T;T)
Reference rs587783016(C;C)
Significance Pathogenic
Disease Leber congenital amaurosis 10 Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Leber congenital amaurosis 10 Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88482934G>A
CLNSRC
CLNACC RCV000144467.1, RCV000201586.1,