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rs863225184

From SNPedia

Orientationminus
Make rs863225184(-;-)
Make rs863225184(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88093903
GeneCEP290
is asnp
is mentioned by
dbSNPrs863225184
ebirs863225184
HLIrs863225184
Exacrs863225184
Varsomers863225184
Maprs863225184
PheGenIrs863225184
hapmaprs863225184
1000 genomesrs863225184
hgdprs863225184
ensemblrs863225184
gopubmedrs863225184
geneviewrs863225184
scholarrs863225184
googlers863225184
pharmgkbrs863225184
gwascentralrs863225184
openSNPrs863225184
23andMers863225184
23andMe allrs863225184
SNP Nexus

SNPshotrs863225184
SNPdbers863225184
MSV3drs863225184
GWAS Ctlgrs863225184
Max Magnitude
ClinVar
Risk rs863225184(;)
Alt rs863225184(;)
Reference rs863225184(T;T)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88487680delA
CLNSRC
CLNACC RCV000201524.1,