rs766608755

Orientation

plus

Stabilized

plus

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

Make rs766608755(-;-)

Make rs766608755(-;TTCT)

Make rs766608755(TTCT;TTCT)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88115144

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs766608755
dbSNP (classic)	rs766608755
ClinGen	rs766608755
ebi	rs766608755
HLI	rs766608755
Exac	rs766608755
Gnomad	rs766608755
Varsome	rs766608755
LitVar	rs766608755
Map	rs766608755
PheGenI	rs766608755
Biobank	rs766608755
1000 genomes	rs766608755
hgdp	rs766608755
ensembl	rs766608755
geneview	rs766608755
scholar	rs766608755
google	rs766608755
pharmgkb	rs766608755
gwascentral	rs766608755
openSNP	rs766608755
23andMe	rs766608755
SNPshot	rs766608755
SNPdbe	rs766608755
MSV3d	rs766608755
GWAS Ctlg	rs766608755

Max Magnitude

0

ClinVar
Risk	rs766608755(-;-)
Alt	rs766608755(-;-)
Reference	Rs766608755(TCTT;TCTT)
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.88508921_88508924delTCTT
CLNSRC
CLNACC	RCV000175482.1, RCV000408291.1,