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rs575767207

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs575767207(A;A)
Make rs575767207(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88079112
GeneCEP290, LOC105369883
is asnp
is mentioned by
dbSNPrs575767207
ebirs575767207
HLIrs575767207
Exacrs575767207
Varsomers575767207
Maprs575767207
PheGenIrs575767207
hapmaprs575767207
1000 genomesrs575767207
hgdprs575767207
ensemblrs575767207
gopubmedrs575767207
geneviewrs575767207
scholarrs575767207
googlers575767207
pharmgkbrs575767207
gwascentralrs575767207
openSNPrs575767207
23andMers575767207
23andMe allrs575767207
SNP Nexus

SNPshotrs575767207
SNPdbers575767207
MSV3drs575767207
GWAS Ctlgrs575767207
Max Magnitude0
ClinVar
Risk rs575767207(A;A)
Alt rs575767207(A;A)
Reference rs575767207(G;G)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88472889G>A
CLNSRC
CLNACC RCV000201766.1,