rs863225183

Orientation

minus

Stabilized

minus

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

Make rs863225183(-;-)

Make rs863225183(-;A)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88111799

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs863225183
dbSNP (classic)	rs863225183
ClinGen	rs863225183
ebi	rs863225183
HLI	rs863225183
Exac	rs863225183
Gnomad	rs863225183
Varsome	rs863225183
LitVar	rs863225183
Map	rs863225183
PheGenI	rs863225183
Biobank	rs863225183
1000 genomes	rs863225183
hgdp	rs863225183
ensembl	rs863225183
geneview	rs863225183
scholar	rs863225183
google	rs863225183
pharmgkb	rs863225183
gwascentral	rs863225183
openSNP	rs863225183
23andMe	rs863225183
SNPshot	rs863225183
SNPdbe	rs863225183
MSV3d	rs863225183
GWAS Ctlg	rs863225183

Max Magnitude

0

ClinVar
Risk	rs863225183(-;-)
Alt	rs863225183(-;-)
Reference	Rs863225183(A;A)
Significance	Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5
Reversed	1
HGVS	NC_000012.11:g.88505576delT
CLNSRC
CLNACC	RCV000201612.1,