rs587779733

Orientation

minus

Stabilized

minus

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

Make rs587779733(-;-)

Make rs587779733(-;A)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

88084669

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs587779733
dbSNP (classic)	rs587779733
ClinGen	rs587779733
ebi	rs587779733
HLI	rs587779733
Exac	rs587779733
Gnomad	rs587779733
Varsome	rs587779733
LitVar	rs587779733
Map	rs587779733
PheGenI	rs587779733
Biobank	rs587779733
1000 genomes	rs587779733
hgdp	rs587779733
ensembl	rs587779733
geneview	rs587779733
scholar	rs587779733
google	rs587779733
pharmgkb	rs587779733
gwascentral	rs587779733
openSNP	rs587779733
23andMe	rs587779733
SNPshot	rs587779733
SNPdbe	rs587779733
MSV3d	rs587779733
GWAS Ctlg	rs587779733

Max Magnitude

0

ClinVar
Risk	rs587779733(-;-)
Alt	rs587779733(-;-)
Reference	Rs587779733(A;A)
Significance	Pathogenic
Disease	Meckel-Gruber syndrome
Variation	info
Gene	CEP290
CLNDBN	Meckel-Gruber syndrome
Reversed	1
HGVS	NC_000012.11:g.88478446delT
CLNSRC
CLNACC	RCV000114199.1,