rs62638179

Orientation

minus

Stabilized

minus

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

Make rs62638179(G;T)

Make rs62638179(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

88083077

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs62638179
dbSNP (classic)	rs62638179
ClinGen	rs62638179
ebi	rs62638179
HLI	rs62638179
Exac	rs62638179
Gnomad	rs62638179
Varsome	rs62638179
LitVar	rs62638179
Map	rs62638179
PheGenI	rs62638179
Biobank	rs62638179
1000 genomes	rs62638179
hgdp	rs62638179
ensembl	rs62638179
geneview	rs62638179
scholar	rs62638179
google	rs62638179
pharmgkb	rs62638179
gwascentral	rs62638179
openSNP	rs62638179
23andMe	rs62638179
SNPshot	rs62638179
SNPdbe	rs62638179
MSV3d	rs62638179
GWAS Ctlg	rs62638179

Max Magnitude

0

ClinVar
Risk	rs62638179(T;T)
Alt	rs62638179(T;T)
Reference	Rs62638179(G;G)
Significance	Probable-Pathogenic
Disease	not provided CEP290-Related Disorders
Variation	info
Gene	CEP290
CLNDBN	not provided CEP290-Related Disorders
Reversed	1
HGVS	NC_000012.11:g.88476854C>A
CLNSRC	Illumina
CLNACC	RCV000086294.1, RCV000263885.1,