rs587783016

Orientation

minus

Stabilized

minus

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

Make rs587783016(C;T)

Make rs587783016(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

88089157

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs587783016
dbSNP (classic)	rs587783016
ClinGen	rs587783016
ebi	rs587783016
HLI	rs587783016
Exac	rs587783016
Gnomad	rs587783016
Varsome	rs587783016
LitVar	rs587783016
Map	rs587783016
PheGenI	rs587783016
Biobank	rs587783016
1000 genomes	rs587783016
hgdp	rs587783016
ensembl	rs587783016
geneview	rs587783016
scholar	rs587783016
google	rs587783016
pharmgkb	rs587783016
gwascentral	rs587783016
openSNP	rs587783016
23andMe	rs587783016
SNPshot	rs587783016
SNPdbe	rs587783016
MSV3d	rs587783016
GWAS Ctlg	rs587783016

Max Magnitude

0

ClinVar
Risk	rs587783016(T;T)
Alt	rs587783016(T;T)
Reference	Rs587783016(C;C)
Significance	Pathogenic
Disease	Leber congenital amaurosis 10 Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Leber congenital amaurosis 10 Joubert syndrome 5
Reversed	1
HGVS	NC_000012.11:g.88482934G>A
CLNSRC
CLNACC	RCV000144467.1, RCV000201586.1,