rs727503853

Orientation

minus

Stabilized

minus

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

Make rs727503853(-;-)

Make rs727503853(-;CAAA)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

88077317

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs727503853
dbSNP (classic)	rs727503853
ClinGen	rs727503853
ebi	rs727503853
HLI	rs727503853
Exac	rs727503853
Gnomad	rs727503853
Varsome	rs727503853
LitVar	rs727503853
Map	rs727503853
PheGenI	rs727503853
Biobank	rs727503853
1000 genomes	rs727503853
hgdp	rs727503853
ensembl	rs727503853
geneview	rs727503853
scholar	rs727503853
google	rs727503853
pharmgkb	rs727503853
gwascentral	rs727503853
openSNP	rs727503853
23andMe	rs727503853
SNPshot	rs727503853
SNPdbe	rs727503853
MSV3d	rs727503853
GWAS Ctlg	rs727503853

Max Magnitude

0

ClinVar
Risk	rs727503853(-;-)
Alt	rs727503853(-;-)
Reference	Rs727503853(CAAA;CAAA)
Significance	Pathogenic
Disease	not provided Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	not provided Joubert syndrome 5
Reversed	1
HGVS	NC_000012.11:g.88471094_88471097delTTTG
CLNSRC	HGMD
CLNACC	RCV000152973.3, RCV000201601.2,