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rs863225189

From SNPedia

Orientationminus
Make rs863225189(-;-)
Make rs863225189(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88093894
GeneCEP290
is asnp
is mentioned by
dbSNPrs863225189
ebirs863225189
HLIrs863225189
Exacrs863225189
Varsomers863225189
Maprs863225189
PheGenIrs863225189
hapmaprs863225189
1000 genomesrs863225189
hgdprs863225189
ensemblrs863225189
gopubmedrs863225189
geneviewrs863225189
scholarrs863225189
googlers863225189
pharmgkbrs863225189
gwascentralrs863225189
openSNPrs863225189
23andMers863225189
23andMe allrs863225189
SNP Nexus

SNPshotrs863225189
SNPdbers863225189
MSV3drs863225189
GWAS Ctlgrs863225189
Max Magnitude
ClinVar
Risk rs863225189(;)
Alt rs863225189(;)
Reference rs863225189(T;T)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88487671delA
CLNSRC
CLNACC RCV000201682.1,