rs201218801

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs201218801(C;T)

Make rs201218801(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

88059897

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs201218801
dbSNP (classic)	rs201218801
ClinGen	rs201218801
ebi	rs201218801
HLI	rs201218801
Exac	rs201218801
Gnomad	rs201218801
Varsome	rs201218801
LitVar	rs201218801
Map	rs201218801
PheGenI	rs201218801
Biobank	rs201218801
1000 genomes	rs201218801
hgdp	rs201218801
ensembl	rs201218801
geneview	rs201218801
scholar	rs201218801
google	rs201218801
pharmgkb	rs201218801
gwascentral	rs201218801
openSNP	rs201218801
23andMe	rs201218801
SNPshot	rs201218801
SNPdbe	rs201218801
MSV3d	rs201218801
GWAS Ctlg	rs201218801

Max Magnitude

0

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,