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rs758329611

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs758329611(-;-)
Make rs758329611(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88059939
GeneCEP290
is asnp
is mentioned by
dbSNPrs758329611
dbSNP (old)rs758329611
ClinGenrs758329611
ebirs758329611
HLIrs758329611
Exacrs758329611
Gnomadrs758329611
Varsomers758329611
Maprs758329611
PheGenIrs758329611
Biobankrs758329611
1000 genomesrs758329611
hgdprs758329611
ensemblrs758329611
gopubmedrs758329611
geneviewrs758329611
scholarrs758329611
googlers758329611
pharmgkbrs758329611
gwascentralrs758329611
openSNPrs758329611
23andMers758329611
23andMe allrs758329611
SNP Nexus

SNPshotrs758329611
SNPdbers758329611
MSV3drs758329611
GWAS Ctlgrs758329611
Max Magnitude0
ClinVar
Risk rs758329611(-;-)
Alt rs758329611(-;-)
Reference Rs758329611(T;T)
Significance Pathogenic
Disease Leber congenital amaurosis 10 Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Leber congenital amaurosis 10 Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88453716delT
CLNSRC
CLNACC RCV000178671.1, RCV000309238.1,