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rs587783010

From SNPedia

Orientationminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs587783010(-;-)
Make rs587783010(-;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position88111320
GeneCEP290
is asnp
is mentioned by
dbSNPrs587783010
ebirs587783010
HLIrs587783010
Exacrs587783010
Varsomers587783010
Maprs587783010
PheGenIrs587783010
hapmaprs587783010
1000 genomesrs587783010
hgdprs587783010
ensemblrs587783010
gopubmedrs587783010
geneviewrs587783010
scholarrs587783010
googlers587783010
pharmgkbrs587783010
gwascentralrs587783010
openSNPrs587783010
23andMers587783010
23andMe allrs587783010
SNP Nexus

SNPshotrs587783010
SNPdbers587783010
MSV3drs587783010
GWAS Ctlgrs587783010
Max Magnitude0
ClinVar
Risk rs587783010(;)
Alt rs587783010(;)
Reference rs587783010(TT;TT)
Significance Pathogenic
Disease Leber congenital amaurosis 10
Variation info
Gene CEP290
CLNDBN Leber congenital amaurosis 10
Reversed 1
HGVS NC_000012.11:g.88505097_88505098delAA
CLNSRC
CLNACC RCV000144460.1,