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rs863225185

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225185(G;G)
Make rs863225185(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88130283
GeneCEP290
is asnp
is mentioned by
dbSNPrs863225185
ebirs863225185
HLIrs863225185
Exacrs863225185
Varsomers863225185
Maprs863225185
PheGenIrs863225185
hapmaprs863225185
1000 genomesrs863225185
hgdprs863225185
ensemblrs863225185
gopubmedrs863225185
geneviewrs863225185
scholarrs863225185
googlers863225185
pharmgkbrs863225185
gwascentralrs863225185
openSNPrs863225185
23andMers863225185
23andMe allrs863225185
SNP Nexus

SNPshotrs863225185
SNPdbers863225185
MSV3drs863225185
GWAS Ctlgrs863225185
Max Magnitude0
ClinVar
Risk rs863225185(G;G)
Alt rs863225185(G;G)
Reference rs863225185(T;T)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88524060A>C
CLNSRC
CLNACC RCV000201653.1,