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rs201218801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201218801(C;T)
Make rs201218801(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position88059897
GeneCEP290
is asnp
is mentioned by
dbSNPrs201218801
dbSNP (old)rs201218801
ClinGenrs201218801
ebirs201218801
HLIrs201218801
Exacrs201218801
Gnomadrs201218801
Varsomers201218801
Maprs201218801
PheGenIrs201218801
Biobankrs201218801
1000 genomesrs201218801
hgdprs201218801
ensemblrs201218801
gopubmedrs201218801
geneviewrs201218801
scholarrs201218801
googlers201218801
pharmgkbrs201218801
gwascentralrs201218801
openSNPrs201218801
23andMers201218801
23andMe allrs201218801
SNPshotrs201218801
SNPdbers201218801
MSV3drs201218801
GWAS Ctlgrs201218801
Max Magnitude0
ClinVar
Risk rs201218801(T;T)
Alt rs201218801(T;T)
Reference Rs201218801(C;C)
Significance Probable-Pathogenic
Disease not provided Joubert syndrome 5
Variation info
Gene CEP290
CLNDBN not provided Joubert syndrome 5
Reversed 0
HGVS NC_000012.11:g.88453674C>T
CLNSRC
CLNACC RCV000395909.1, RCV000454208.1,