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rs863225183

From SNPedia

Orientationminus
Make rs863225183(-;-)
Make rs863225183(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88111799
GeneCEP290
is asnp
is mentioned by
dbSNPrs863225183
ebirs863225183
HLIrs863225183
Exacrs863225183
Varsomers863225183
Maprs863225183
PheGenIrs863225183
hapmaprs863225183
1000 genomesrs863225183
hgdprs863225183
ensemblrs863225183
gopubmedrs863225183
geneviewrs863225183
scholarrs863225183
googlers863225183
pharmgkbrs863225183
gwascentralrs863225183
openSNPrs863225183
23andMers863225183
23andMe allrs863225183
SNP Nexus

SNPshotrs863225183
SNPdbers863225183
MSV3drs863225183
GWAS Ctlgrs863225183
Max Magnitude
ClinVar
Risk rs863225183(;)
Alt rs863225183(;)
Reference rs863225183(A;A)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88505576delT
CLNSRC
CLNACC RCV000201612.1,