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rs780624853

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTCT;TTCT) 0 common in clinvar
Make rs780624853(-;-)
Make rs780624853(-;TTCT)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88084835
GeneCEP290
is asnp
is mentioned by
dbSNPrs780624853
dbSNP (old)rs780624853
ClinGenrs780624853
ebirs780624853
HLIrs780624853
Exacrs780624853
Gnomadrs780624853
Varsomers780624853
Maprs780624853
PheGenIrs780624853
Biobankrs780624853
1000 genomesrs780624853
hgdprs780624853
ensemblrs780624853
gopubmedrs780624853
geneviewrs780624853
scholarrs780624853
googlers780624853
pharmgkbrs780624853
gwascentralrs780624853
openSNPrs780624853
23andMers780624853
23andMe allrs780624853
SNP Nexus

SNPshotrs780624853
SNPdbers780624853
MSV3drs780624853
GWAS Ctlgrs780624853
Max Magnitude0
ClinVar
Risk rs780624853(-;-)
Alt rs780624853(-;-)
Reference Rs780624853(TTCT;TTCT)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88478612_88478615delTTCT
CLNSRC
CLNACC RCV000201704.1,