rs137852832

Orientation

minus

Stabilized

minus

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

Make rs137852832(G;T)

Make rs137852832(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88077263

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs137852832
dbSNP (classic)	rs137852832
ClinGen	rs137852832
ebi	rs137852832
HLI	rs137852832
Exac	rs137852832
Gnomad	rs137852832
Varsome	rs137852832
LitVar	rs137852832
Map	rs137852832
PheGenI	rs137852832
Biobank	rs137852832
1000 genomes	rs137852832
hgdp	rs137852832
ensembl	rs137852832
geneview	rs137852832
scholar	rs137852832
google	rs137852832
pharmgkb	rs137852832
gwascentral	rs137852832
openSNP	rs137852832
23andMe	rs137852832
SNPshot	rs137852832
SNPdbe	rs137852832
MSV3d	rs137852832
GWAS Ctlg	rs137852832

Max Magnitude

0

OMIM	610142
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137852832(T;T)
Alt	rs137852832(T;T)
Reference	Rs137852832(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 5 not provided Meckel-Gruber syndrome Leber congenital amaurosis 10
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5 not provided Meckel-Gruber syndrome Leber congenital amaurosis 10
Reversed	1
HGVS	NC_000012.11:g.88471040C>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000001396.5, RCV000086298.1, RCV000114202.1, RCV000152972.3,