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rs758550675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGAG;TGAG) 0 common in clinvar
Make rs758550675(-;-)
Make rs758550675(-;TGAG)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88140969
GeneCEP290, TMTC3
is asnp
is mentioned by
dbSNPrs758550675
ClinGenrs758550675
ebirs758550675
HLIrs758550675
Exacrs758550675
Varsomers758550675
Maprs758550675
PheGenIrs758550675
hapmaprs758550675
1000 genomesrs758550675
hgdprs758550675
ensemblrs758550675
gopubmedrs758550675
geneviewrs758550675
scholarrs758550675
googlers758550675
pharmgkbrs758550675
gwascentralrs758550675
openSNPrs758550675
23andMers758550675
23andMe allrs758550675
SNP Nexus

SNPshotrs758550675
SNPdbers758550675
MSV3drs758550675
GWAS Ctlgrs758550675
Max Magnitude0
ClinVar
Risk rs758550675(-;-)
Alt rs758550675(-;-)
Reference Rs758550675(TGAG;TGAG)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290 TMTC3
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88534746_88534749delTGAG
CLNSRC
CLNACC RCV000201609.1,