rs587783017

Orientation

minus

Stabilized

minus

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

Make rs587783017(-;A)

Make rs587783017(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

88055666

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs587783017
dbSNP (classic)	rs587783017
ClinGen	rs587783017
ebi	rs587783017
HLI	rs587783017
Exac	rs587783017
Gnomad	rs587783017
Varsome	rs587783017
LitVar	rs587783017
Map	rs587783017
PheGenI	rs587783017
Biobank	rs587783017
1000 genomes	rs587783017
hgdp	rs587783017
ensembl	rs587783017
geneview	rs587783017
scholar	rs587783017
google	rs587783017
pharmgkb	rs587783017
gwascentral	rs587783017
openSNP	rs587783017
23andMe	rs587783017
SNPshot	rs587783017
SNPdbe	rs587783017
MSV3d	rs587783017
GWAS Ctlg	rs587783017

Max Magnitude

0

ClinVar
Risk	rs587783017(A;A)
Alt	rs587783017(A;A)
Reference	Rs587783017(-;-)
Significance	Pathogenic
Disease	Leber congenital amaurosis 10 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis
Variation	info
Gene	CEP290
CLNDBN	Leber congenital amaurosis 10 Joubert syndrome Meckel-Gruber syndrome Nephronophthisis
Reversed	1
HGVS	NC_000012.11:g.88449444dupT
CLNSRC
CLNACC	RCV000144468.1, RCV000457302.1,