rs539400286

Orientation

plus

Stabilized

plus

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

Make rs539400286(A;A)

Make rs539400286(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88086083

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs539400286
dbSNP (classic)	rs539400286
ClinGen	rs539400286
ebi	rs539400286
HLI	rs539400286
Exac	rs539400286
Gnomad	rs539400286
Varsome	rs539400286
LitVar	rs539400286
Map	rs539400286
PheGenI	rs539400286
Biobank	rs539400286
1000 genomes	rs539400286
hgdp	rs539400286
ensembl	rs539400286
geneview	rs539400286
scholar	rs539400286
google	rs539400286
pharmgkb	rs539400286
gwascentral	rs539400286
openSNP	rs539400286
23andMe	rs539400286
SNPshot	rs539400286
SNPdbe	rs539400286
MSV3d	rs539400286
GWAS Ctlg	rs539400286

Max Magnitude

0

ClinVar
Risk	rs539400286(A;A)
Alt	rs539400286(A;A)
Reference	Rs539400286(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5
Reversed	0
HGVS	NC_000012.11:g.88479860G>A
CLNSRC
CLNACC	RCV000201563.1,