rs771454167

Orientation

plus

Stabilized

plus

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

Make rs771454167(-;-)

Make rs771454167(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88062772

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs771454167
dbSNP (classic)	rs771454167
ClinGen	rs771454167
ebi	rs771454167
HLI	rs771454167
Exac	rs771454167
Gnomad	rs771454167
Varsome	rs771454167
LitVar	rs771454167
Map	rs771454167
PheGenI	rs771454167
Biobank	rs771454167
1000 genomes	rs771454167
hgdp	rs771454167
ensembl	rs771454167
geneview	rs771454167
scholar	rs771454167
google	rs771454167
pharmgkb	rs771454167
gwascentral	rs771454167
openSNP	rs771454167
23andMe	rs771454167
SNPshot	rs771454167
SNPdbe	rs771454167
MSV3d	rs771454167
GWAS Ctlg	rs771454167

Max Magnitude

0

ClinVar
Risk	rs771454167(-;-)
Alt	rs771454167(-;-)
Reference	Rs771454167(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 5 not provided
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5 not provided
Reversed	0
HGVS	NC_000012.11:g.88456549delC
CLNSRC
CLNACC	RCV000201679.1, RCV000487320.1,