rs758329611

Orientation

plus

Stabilized

plus

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

Make rs758329611(-;-)

Make rs758329611(-;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88059939

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs758329611
dbSNP (classic)	rs758329611
ClinGen	rs758329611
ebi	rs758329611
HLI	rs758329611
Exac	rs758329611
Gnomad	rs758329611
Varsome	rs758329611
LitVar	rs758329611
Map	rs758329611
PheGenI	rs758329611
Biobank	rs758329611
1000 genomes	rs758329611
hgdp	rs758329611
ensembl	rs758329611
geneview	rs758329611
scholar	rs758329611
google	rs758329611
pharmgkb	rs758329611
gwascentral	rs758329611
openSNP	rs758329611
23andMe	rs758329611
SNPshot	rs758329611
SNPdbe	rs758329611
MSV3d	rs758329611
GWAS Ctlg	rs758329611

Max Magnitude

0

ClinVar
Risk	rs758329611(-;-)
Alt	rs758329611(-;-)
Reference	Rs758329611(T;T)
Significance	Pathogenic
Disease	Leber congenital amaurosis 10 Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Leber congenital amaurosis 10 Joubert syndrome 5
Reversed	0
HGVS	NC_000012.11:g.88453716delT
CLNSRC
CLNACC	RCV000178671.1, RCV000309238.1,