rs376493409

Orientation

plus

Stabilized

plus

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

Make rs376493409(A;A)

Make rs376493409(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88083161

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs376493409
dbSNP (classic)	rs376493409
ClinGen	rs376493409
ebi	rs376493409
HLI	rs376493409
Exac	rs376493409
Gnomad	rs376493409
Varsome	rs376493409
LitVar	rs376493409
Map	rs376493409
PheGenI	rs376493409
Biobank	rs376493409
1000 genomes	rs376493409
hgdp	rs376493409
ensembl	rs376493409
geneview	rs376493409
scholar	rs376493409
google	rs376493409
pharmgkb	rs376493409
gwascentral	rs376493409
openSNP	rs376493409
23andMe	rs376493409
SNPshot	rs376493409
SNPdbe	rs376493409
MSV3d	rs376493409
GWAS Ctlg	rs376493409

Max Magnitude

0

ClinVar
Risk	rs376493409(A;A)
Alt	rs376493409(A;A)
Reference	Rs376493409(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 5 Blindness Global developmental delay not provided
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5 Blindness Global developmental delay not provided
Reversed	0
HGVS	NC_000012.11:g.88476938G>A
CLNSRC
CLNACC	RCV000201672.1, RCV000414892.1, RCV000493605.1,