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rs863225182

From SNPedia

Orientationminus
Make rs863225182(-;-)
Make rs863225182(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88086092
GeneCEP290
is asnp
is mentioned by
dbSNPrs863225182
ebirs863225182
HLIrs863225182
Exacrs863225182
Varsomers863225182
Maprs863225182
PheGenIrs863225182
hapmaprs863225182
1000 genomesrs863225182
hgdprs863225182
ensemblrs863225182
gopubmedrs863225182
geneviewrs863225182
scholarrs863225182
googlers863225182
pharmgkbrs863225182
gwascentralrs863225182
openSNPrs863225182
23andMers863225182
23andMe allrs863225182
SNP Nexus

SNPshotrs863225182
SNPdbers863225182
MSV3drs863225182
GWAS Ctlgrs863225182
Max Magnitude
ClinVar
Risk rs863225182(;)
Alt rs863225182(;)
Reference rs863225182(G;G)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88479869delC
CLNSRC
CLNACC RCV000201700.1,