rs137852833

Orientation

minus

Stabilized

minus

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

Make rs137852833(G;G)

Make rs137852833(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88111320

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs137852833
dbSNP (classic)	rs137852833
ClinGen	rs137852833
ebi	rs137852833
HLI	rs137852833
Exac	rs137852833
Gnomad	rs137852833
Varsome	rs137852833
LitVar	rs137852833
Map	rs137852833
PheGenI	rs137852833
Biobank	rs137852833
1000 genomes	rs137852833
hgdp	rs137852833
ensembl	rs137852833
geneview	rs137852833
scholar	rs137852833
google	rs137852833
pharmgkb	rs137852833
gwascentral	rs137852833
openSNP	rs137852833
23andMe	rs137852833
SNPshot	rs137852833
SNPdbe	rs137852833
MSV3d	rs137852833
GWAS Ctlg	rs137852833

Max Magnitude

0

OMIM	610142
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852833(G;G)
Alt	rs137852833(G;G)
Reference	Rs137852833(T;T)
Significance	Pathogenic
Disease	Leber congenital amaurosis 10
Variation	info
Gene	CEP290
CLNDBN	Leber congenital amaurosis 10
Reversed	1
HGVS	NC_000012.11:g.88505097A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001401.2,