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rs747835249

From SNPedia

Orientationplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs747835249(-;-)
Make rs747835249(-;AC)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position88114418
GeneCEP290
is asnp
is mentioned by
dbSNPrs747835249
ebirs747835249
HLIrs747835249
Exacrs747835249
Varsomers747835249
Maprs747835249
PheGenIrs747835249
hapmaprs747835249
1000 genomesrs747835249
hgdprs747835249
ensemblrs747835249
gopubmedrs747835249
geneviewrs747835249
scholarrs747835249
googlers747835249
pharmgkbrs747835249
gwascentralrs747835249
openSNPrs747835249
23andMers747835249
23andMe allrs747835249
SNP Nexus

SNPshotrs747835249
SNPdbers747835249
MSV3drs747835249
GWAS Ctlgrs747835249
Max Magnitude0
ClinVar
Risk rs747835249(;)
Alt rs747835249(;)
Reference rs747835249(AC;AC)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene CEP290
CLNDBN Retinal dystrophy
Reversed 0
HGVS NC_000012.11:g.88508195_88508196delAC
CLNSRC
CLNACC RCV000225427.1,