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rs769761100

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs769761100(-;T)
Make rs769761100(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88118527
GeneCEP290
is asnp
is mentioned by
dbSNPrs769761100
dbSNP (old)rs769761100
ClinGenrs769761100
ebirs769761100
HLIrs769761100
Exacrs769761100
Varsomers769761100
Maprs769761100
PheGenIrs769761100
Biobankrs769761100
1000 genomesrs769761100
hgdprs769761100
ensemblrs769761100
gopubmedrs769761100
geneviewrs769761100
scholarrs769761100
googlers769761100
pharmgkbrs769761100
gwascentralrs769761100
openSNPrs769761100
23andMers769761100
23andMe allrs769761100
SNP Nexus

SNPshotrs769761100
SNPdbers769761100
MSV3drs769761100
GWAS Ctlgrs769761100
Max Magnitude0
ClinVar
Risk rs769761100(T;T)
Alt rs769761100(T;T)
Reference Rs769761100(-;-)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88512305dupT
CLNSRC
CLNACC RCV000201724.1,