rs747983279

Orientation

plus

Stabilized

plus

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

Make rs747983279(-;-)

Make rs747983279(-;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88118528

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs747983279
dbSNP (classic)	rs747983279
ClinGen	rs747983279
ebi	rs747983279
HLI	rs747983279
Exac	rs747983279
Gnomad	rs747983279
Varsome	rs747983279
LitVar	rs747983279
Map	rs747983279
PheGenI	rs747983279
Biobank	rs747983279
1000 genomes	rs747983279
hgdp	rs747983279
ensembl	rs747983279
geneview	rs747983279
scholar	rs747983279
google	rs747983279
pharmgkb	rs747983279
gwascentral	rs747983279
openSNP	rs747983279
23andMe	rs747983279
SNPshot	rs747983279
SNPdbe	rs747983279
MSV3d	rs747983279
GWAS Ctlg	rs747983279

Max Magnitude

0

ClinVar
Risk	rs747983279(-;-)
Alt	rs747983279(-;-)
Reference	Rs747983279(T;T)
Significance	Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5
Reversed	0
HGVS	NC_000012.11:g.88512305delT
CLNSRC
CLNACC	RCV000201771.1,