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rs863224523

From SNPedia

Orientationminus
Make rs863224523(-;-)
Make rs863224523(-;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88086416
GeneCEP290
is asnp
is mentioned by
dbSNPrs863224523
ebirs863224523
HLIrs863224523
Exacrs863224523
Varsomers863224523
Maprs863224523
PheGenIrs863224523
hapmaprs863224523
1000 genomesrs863224523
hgdprs863224523
ensemblrs863224523
gopubmedrs863224523
geneviewrs863224523
scholarrs863224523
googlers863224523
pharmgkbrs863224523
gwascentralrs863224523
openSNPrs863224523
23andMers863224523
23andMe allrs863224523
SNP Nexus

SNPshotrs863224523
SNPdbers863224523
MSV3drs863224523
GWAS Ctlgrs863224523
Max Magnitude
ClinVar
Risk rs863224523(;)
Alt rs863224523(;)
Reference rs863224523(AA;AA)
Significance Pathogenic
Disease Familial aplasia of the vermis
Variation info
Gene CEP290
CLNDBN Familial aplasia of the vermis
Reversed 1
HGVS NC_000012.11:g.88480193_88480194delTT
CLNSRC
CLNACC RCV000196701.1,