rs587783009

Orientation

minus

Stabilized

minus

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

Make rs587783009(A;A)

Make rs587783009(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

88118482

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs587783009
dbSNP (classic)	rs587783009
ClinGen	rs587783009
ebi	rs587783009
HLI	rs587783009
Exac	rs587783009
Gnomad	rs587783009
Varsome	rs587783009
LitVar	rs587783009
Map	rs587783009
PheGenI	rs587783009
Biobank	rs587783009
1000 genomes	rs587783009
hgdp	rs587783009
ensembl	rs587783009
geneview	rs587783009
scholar	rs587783009
google	rs587783009
pharmgkb	rs587783009
gwascentral	rs587783009
openSNP	rs587783009
23andMe	rs587783009
SNPshot	rs587783009
SNPdbe	rs587783009
MSV3d	rs587783009
GWAS Ctlg	rs587783009

Max Magnitude

0

ClinVar
Risk	rs587783009(A;A)
Alt	rs587783009(A;A)
Reference	Rs587783009(G;G)
Significance	Pathogenic
Disease	Leber congenital amaurosis 10
Variation	info
Gene	CEP290
CLNDBN	Leber congenital amaurosis 10
Reversed	1
HGVS	NC_000012.11:g.88512259C>T
CLNSRC
CLNACC	RCV000144459.1,