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rs863225186

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225186(A;A)
Make rs863225186(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88118642
GeneCEP290
is asnp
is mentioned by
dbSNPrs863225186
dbSNP (old)rs863225186
ClinGenrs863225186
ebirs863225186
HLIrs863225186
Exacrs863225186
Varsomers863225186
Maprs863225186
PheGenIrs863225186
Biobankrs863225186
1000 genomesrs863225186
hgdprs863225186
ensemblrs863225186
gopubmedrs863225186
geneviewrs863225186
scholarrs863225186
googlers863225186
pharmgkbrs863225186
gwascentralrs863225186
openSNPrs863225186
23andMers863225186
23andMe allrs863225186
SNP Nexus

SNPshotrs863225186
SNPdbers863225186
MSV3drs863225186
GWAS Ctlgrs863225186
Max Magnitude0
ClinVar
Risk rs863225186(A;A)
Alt rs863225186(A;A)
Reference Rs863225186(G;G)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88512419C>T
CLNSRC
CLNACC RCV000201746.1,