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rs267606719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606719(G;T)
Make rs267606719(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position88077227
GeneCEP290
is asnp
is mentioned by
dbSNPrs267606719
ebirs267606719
HLIrs267606719
Exacrs267606719
Varsomers267606719
Maprs267606719
PheGenIrs267606719
hapmaprs267606719
1000 genomesrs267606719
hgdprs267606719
ensemblrs267606719
gopubmedrs267606719
geneviewrs267606719
scholarrs267606719
googlers267606719
pharmgkbrs267606719
gwascentralrs267606719
openSNPrs267606719
23andMers267606719
23andMe allrs267606719
SNP Nexus

SNPshotrs267606719
SNPdbers267606719
MSV3drs267606719
GWAS Ctlgrs267606719
Max Magnitude0
ClinVar
Risk rs267606719(T;T)
Alt rs267606719(T;T)
Reference rs267606719(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome 14 Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Bardet-Biedl syndrome 14 Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88471004C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001410.5, RCV000201631.1,