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rs747983279

From SNPedia

Orientationplus
Make rs747983279(-;-)
Make rs747983279(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88118528
GeneCEP290
is asnp
is mentioned by
dbSNPrs747983279
ebirs747983279
HLIrs747983279
Exacrs747983279
Varsomers747983279
Maprs747983279
PheGenIrs747983279
hapmaprs747983279
1000 genomesrs747983279
hgdprs747983279
ensemblrs747983279
gopubmedrs747983279
geneviewrs747983279
scholarrs747983279
googlers747983279
pharmgkbrs747983279
gwascentralrs747983279
openSNPrs747983279
23andMers747983279
23andMe allrs747983279
SNP Nexus

SNPshotrs747983279
SNPdbers747983279
MSV3drs747983279
GWAS Ctlgrs747983279
Max Magnitude
ClinVar
Risk rs747983279(;)
Alt rs747983279(;)
Reference rs747983279(T;T)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88512305delT
CLNSRC
CLNACC RCV000201771.1,