rs773386777

Orientation

plus

Stabilized

plus

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

Make rs773386777(C;C)

Make rs773386777(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

88093977

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs773386777
dbSNP (classic)	rs773386777
ClinGen	rs773386777
ebi	rs773386777
HLI	rs773386777
Exac	rs773386777
Gnomad	rs773386777
Varsome	rs773386777
LitVar	rs773386777
Map	rs773386777
PheGenI	rs773386777
Biobank	rs773386777
1000 genomes	rs773386777
hgdp	rs773386777
ensembl	rs773386777
geneview	rs773386777
scholar	rs773386777
google	rs773386777
pharmgkb	rs773386777
gwascentral	rs773386777
openSNP	rs773386777
23andMe	rs773386777
SNPshot	rs773386777
SNPdbe	rs773386777
MSV3d	rs773386777
GWAS Ctlg	rs773386777

Max Magnitude

0

ClinVar
Risk	rs773386777(C;C)
Alt	rs773386777(C;C)
Reference	Rs773386777(T;T)
Significance	Pathogenic
Disease	Abnormality of the kidney Agenesis of cerebellar vermis Cerebellar cyst Cerebellar vermis hypoplasia Hyperechogenic kidneys Polycystic kidney dysplasia
Variation	info
Gene	CEP290
CLNDBN	Abnormality of the kidney Agenesis of cerebellar vermis Cerebellar cyst Cerebellar vermis hypoplasia Hyperechogenic kidneys Polycystic kidney dysplasia
Reversed	0
HGVS	NC_000012.11:g.88487754T>C
CLNSRC
CLNACC	RCV000415418.1,