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rs587779733

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779733(-;-)
Make rs587779733(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position88084669
GeneCEP290
is asnp
is mentioned by
dbSNPrs587779733
ebirs587779733
HLIrs587779733
Exacrs587779733
Varsomers587779733
Maprs587779733
PheGenIrs587779733
hapmaprs587779733
1000 genomesrs587779733
hgdprs587779733
ensemblrs587779733
gopubmedrs587779733
geneviewrs587779733
scholarrs587779733
googlers587779733
pharmgkbrs587779733
gwascentralrs587779733
openSNPrs587779733
23andMers587779733
23andMe allrs587779733
SNP Nexus

SNPshotrs587779733
SNPdbers587779733
MSV3drs587779733
GWAS Ctlgrs587779733
Max Magnitude0
ClinVar
Risk rs587779733(;)
Alt rs587779733(;)
Reference rs587779733(A;A)
Significance Pathogenic
Disease Meckel-Gruber syndrome
Variation info
Gene CEP290
CLNDBN Meckel-Gruber syndrome
Reversed 1
HGVS NC_000012.11:g.88478446delT
CLNSRC
CLNACC RCV000114199.1,