rs62640570

Orientation

minus

Stabilized

minus

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

Make rs62640570(-;A)

Make rs62640570(A;A)

Reference

GRCh38 38.1/142

Chromosome

12

Position

88093903

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs62640570
dbSNP (classic)	rs62640570
ClinGen	rs62640570
ebi	rs62640570
HLI	rs62640570
Exac	rs62640570
Gnomad	rs62640570
Varsome	rs62640570
LitVar	rs62640570
Map	rs62640570
PheGenI	rs62640570
Biobank	rs62640570
1000 genomes	rs62640570
hgdp	rs62640570
ensembl	rs62640570
geneview	rs62640570
scholar	rs62640570
google	rs62640570
pharmgkb	rs62640570
gwascentral	rs62640570
openSNP	rs62640570
23andMe	rs62640570
SNPshot	rs62640570
SNPdbe	rs62640570
MSV3d	rs62640570
GWAS Ctlg	rs62640570

Max Magnitude

0

ClinVar
Risk	rs62640570(A;A)
Alt	rs62640570(A;A)
Reference	Rs62640570(-;-)
Significance	Pathogenic
Disease	not provided Meckel-Gruber syndrome Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	not provided Meckel-Gruber syndrome Joubert syndrome 5
Reversed	1
HGVS	NC_000012.11:g.88487681dupT
CLNSRC	ClinVar Retina International
CLNACC	RCV000086287.1, RCV000114193.1, RCV000201666.1,