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rs539400286

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs539400286(A;A)
Make rs539400286(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88086083
GeneCEP290
is asnp
is mentioned by
dbSNPrs539400286
ebirs539400286
HLIrs539400286
Exacrs539400286
Varsomers539400286
Maprs539400286
PheGenIrs539400286
hapmaprs539400286
1000 genomesrs539400286
hgdprs539400286
ensemblrs539400286
gopubmedrs539400286
geneviewrs539400286
scholarrs539400286
googlers539400286
pharmgkbrs539400286
gwascentralrs539400286
openSNPrs539400286
23andMers539400286
23andMe allrs539400286
SNP Nexus

SNPshotrs539400286
SNPdbers539400286
MSV3drs539400286
GWAS Ctlgrs539400286
Max Magnitude0
ClinVar
Risk rs539400286(A;A)
Alt rs539400286(A;A)
Reference rs539400286(G;G)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88479860G>A
CLNSRC
CLNACC RCV000201563.1,