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rs863225188

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225188(G;T)
Make rs863225188(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position88141034
GeneCEP290, TMTC3
is asnp
is mentioned by
dbSNPrs863225188
ebirs863225188
HLIrs863225188
Exacrs863225188
Varsomers863225188
Maprs863225188
PheGenIrs863225188
hapmaprs863225188
1000 genomesrs863225188
hgdprs863225188
ensemblrs863225188
gopubmedrs863225188
geneviewrs863225188
scholarrs863225188
googlers863225188
pharmgkbrs863225188
gwascentralrs863225188
openSNPrs863225188
23andMers863225188
23andMe allrs863225188
SNP Nexus

SNPshotrs863225188
SNPdbers863225188
MSV3drs863225188
GWAS Ctlgrs863225188
Max Magnitude0
ClinVar
Risk rs863225188(T;T)
Alt rs863225188(T;T)
Reference rs863225188(G;G)
Significance Pathogenic
Disease Joubert syndrome 5
Variation info
Gene CEP290 TMTC3
CLNDBN Joubert syndrome 5
Reversed 1
HGVS NC_000012.11:g.88534811C>A
CLNSRC
CLNACC RCV000201578.1,