rs727503855

Orientation

minus

Stabilized

minus

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

Make rs727503855(-;-)

Make rs727503855(-;AA)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

88118528

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs727503855
dbSNP (classic)	rs727503855
ClinGen	rs727503855
ebi	rs727503855
HLI	rs727503855
Exac	rs727503855
Gnomad	rs727503855
Varsome	rs727503855
LitVar	rs727503855
Map	rs727503855
PheGenI	rs727503855
Biobank	rs727503855
1000 genomes	rs727503855
hgdp	rs727503855
ensembl	rs727503855
geneview	rs727503855
scholar	rs727503855
google	rs727503855
pharmgkb	rs727503855
gwascentral	rs727503855
openSNP	rs727503855
23andMe	rs727503855
SNPshot	rs727503855
SNPdbe	rs727503855
MSV3d	rs727503855
GWAS Ctlg	rs727503855

Max Magnitude

0

ClinVar
Risk	rs727503855(-;-)
Alt	rs727503855(-;-)
Reference	Rs727503855(AA;AA)
Significance	Pathogenic
Disease	not provided Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	not provided Joubert syndrome 5
Reversed	1
HGVS	NC_000012.11:g.88512305_88512306delTT
CLNSRC
CLNACC	RCV000152979.3, RCV000288963.1,