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rs779262951

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs779262951(A;A)
Make rs779262951(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88068585
GeneCEP290, LOC105369883
is asnp
is mentioned by
dbSNPrs779262951
ebirs779262951
HLIrs779262951
Exacrs779262951
Varsomers779262951
Maprs779262951
PheGenIrs779262951
hapmaprs779262951
1000 genomesrs779262951
hgdprs779262951
ensemblrs779262951
gopubmedrs779262951
geneviewrs779262951
scholarrs779262951
googlers779262951
pharmgkbrs779262951
gwascentralrs779262951
openSNPrs779262951
23andMers779262951
23andMe allrs779262951
SNP Nexus

SNPshotrs779262951
SNPdbers779262951
MSV3drs779262951
GWAS Ctlgrs779262951
Max Magnitude0
ClinVar
Risk rs779262951(A;A)
Alt rs779262951(A;A)
Reference rs779262951(G;G)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88462362G>T
CLNSRC
CLNACC RCV000201548.1,