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rs766608755

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTT;TCTT) 0 common in clinvar
Make rs766608755(-;-)
Make rs766608755(-;TTCT)
Make rs766608755(TTCT;TTCT)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88115144
GeneCEP290
is asnp
is mentioned by
dbSNPrs766608755
dbSNP (old)rs766608755
ClinGenrs766608755
ebirs766608755
HLIrs766608755
Exacrs766608755
Gnomadrs766608755
Varsomers766608755
Maprs766608755
PheGenIrs766608755
Biobankrs766608755
1000 genomesrs766608755
hgdprs766608755
ensemblrs766608755
gopubmedrs766608755
geneviewrs766608755
scholarrs766608755
googlers766608755
pharmgkbrs766608755
gwascentralrs766608755
openSNPrs766608755
23andMers766608755
23andMe allrs766608755
SNP Nexus

SNPshotrs766608755
SNPdbers766608755
MSV3drs766608755
GWAS Ctlgrs766608755
Max Magnitude0
ClinVar
Risk rs766608755(-;-)
Alt rs766608755(-;-)
Reference Rs766608755(TCTT;TCTT)
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.88508921_88508924delTCTT
CLNSRC
CLNACC RCV000175482.1, RCV000408291.1,