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rs62640570

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(D;D) 0
Make rs62640570(-;-)
Make rs62640570(-;A)
Make rs62640570(A;A)
ReferenceGRCh38 38.1/142
Chromosome12
Position88093903
GeneCEP290
is asnp
is mentioned by
dbSNPrs62640570
ebirs62640570
HLIrs62640570
Exacrs62640570
Varsomers62640570
Maprs62640570
PheGenIrs62640570
hapmaprs62640570
1000 genomesrs62640570
hgdprs62640570
ensemblrs62640570
gopubmedrs62640570
geneviewrs62640570
scholarrs62640570
googlers62640570
pharmgkbrs62640570
gwascentralrs62640570
openSNPrs62640570
23andMers62640570
23andMe allrs62640570
SNP Nexus

SNPshotrs62640570
SNPdbers62640570
MSV3drs62640570
GWAS Ctlgrs62640570
Max Magnitude0


ClinVar
Risk rs62640570(A;A)
Alt rs62640570(A;A)
Reference rs62640570(;)
Significance Pathogenic
Disease not provided Meckel-Gruber syndrome Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN not provided Meckel-Gruber syndrome Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88487681dupT
CLNSRC ClinVar Retina International
CLNACC RCV000086287.1, RCV000114193.1, RCV000201666.1,