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rs771454167

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs771454167(-;-)
Make rs771454167(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88062772
GeneCEP290
is asnp
is mentioned by
dbSNPrs771454167
dbSNP (old)rs771454167
ClinGenrs771454167
ebirs771454167
HLIrs771454167
Exacrs771454167
Gnomadrs771454167
Varsomers771454167
Maprs771454167
PheGenIrs771454167
Biobankrs771454167
1000 genomesrs771454167
hgdprs771454167
ensemblrs771454167
gopubmedrs771454167
geneviewrs771454167
scholarrs771454167
googlers771454167
pharmgkbrs771454167
gwascentralrs771454167
openSNPrs771454167
23andMers771454167
23andMe allrs771454167
SNP Nexus

SNPshotrs771454167
SNPdbers771454167
MSV3drs771454167
GWAS Ctlgrs771454167
Max Magnitude0
ClinVar
Risk rs771454167(-;-)
Alt rs771454167(-;-)
Reference Rs771454167(C;C)
Significance Pathogenic
Disease Joubert syndrome 5 not provided
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5 not provided
Reversed 0
HGVS NC_000012.11:g.88456549delC
CLNSRC
CLNACC RCV000201679.1, RCV000487320.1,