rs747835249

Orientation

plus

Stabilized

plus

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

Make rs747835249(-;-)

Make rs747835249(-;AC)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

88114418

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs747835249
dbSNP (classic)	rs747835249
ClinGen	rs747835249
ebi	rs747835249
HLI	rs747835249
Exac	rs747835249
Gnomad	rs747835249
Varsome	rs747835249
LitVar	rs747835249
Map	rs747835249
PheGenI	rs747835249
Biobank	rs747835249
1000 genomes	rs747835249
hgdp	rs747835249
ensembl	rs747835249
geneview	rs747835249
scholar	rs747835249
google	rs747835249
pharmgkb	rs747835249
gwascentral	rs747835249
openSNP	rs747835249
23andMe	rs747835249
SNPshot	rs747835249
SNPdbe	rs747835249
MSV3d	rs747835249
GWAS Ctlg	rs747835249

Max Magnitude

0

ClinVar
Risk	rs747835249(-;-)
Alt	rs747835249(-;-)
Reference	Rs747835249(AC;AC)
Significance	Pathogenic
Disease	Retinal dystrophy Leber congenital amaurosis 10
Variation	info
Gene	CEP290
CLNDBN	Retinal dystrophy Leber congenital amaurosis 10
Reversed	0
HGVS	NC_000012.11:g.88508195_88508196delAC
CLNSRC
CLNACC	RCV000225427.1, RCV000387808.1,