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rs727503853

From SNPedia

Orientationminus
Geno Mag Summary
(CAAA;CAAA) 0 common in clinvar
Make rs727503853(-;-)
Make rs727503853(-;CAAA)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position88077317
GeneCEP290, LOC105369883
is asnp
is mentioned by
dbSNPrs727503853
ebirs727503853
HLIrs727503853
Exacrs727503853
Varsomers727503853
Maprs727503853
PheGenIrs727503853
hapmaprs727503853
1000 genomesrs727503853
hgdprs727503853
ensemblrs727503853
gopubmedrs727503853
geneviewrs727503853
scholarrs727503853
googlers727503853
pharmgkbrs727503853
gwascentralrs727503853
openSNPrs727503853
23andMers727503853
23andMe allrs727503853
SNP Nexus

SNPshotrs727503853
SNPdbers727503853
MSV3drs727503853
GWAS Ctlgrs727503853
Max Magnitude0
ClinVar
Risk rs727503853(;)
Alt rs727503853(;)
Reference rs727503853(CAAA;CAAA)
Significance Pathogenic
Disease not provided Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN not provided Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88471094_88471097delTTTG
CLNSRC HGMD
CLNACC RCV000152973.3, RCV000201601.1,