rs797044604

Orientation

minus

Stabilized

minus

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

Make rs797044604(G;T)

Make rs797044604(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88086450

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs797044604
dbSNP (classic)	rs797044604
ClinGen	rs797044604
ebi	rs797044604
HLI	rs797044604
Exac	rs797044604
Gnomad	rs797044604
Varsome	rs797044604
LitVar	rs797044604
Map	rs797044604
PheGenI	rs797044604
Biobank	rs797044604
1000 genomes	rs797044604
hgdp	rs797044604
ensembl	rs797044604
geneview	rs797044604
scholar	rs797044604
google	rs797044604
pharmgkb	rs797044604
gwascentral	rs797044604
openSNP	rs797044604
23andMe	rs797044604
SNPshot	rs797044604
SNPdbe	rs797044604
MSV3d	rs797044604
GWAS Ctlg	rs797044604

Max Magnitude

0

ClinVar
Risk	rs797044604(T;T)
Alt	rs797044604(T;T)
Reference	Rs797044604(G;G)
Significance	Probable-Pathogenic
Disease	Bardet-Biedl syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome type 4 Senior-Loken syndrome 6
Variation	info
Gene	CEP290
CLNDBN	Bardet-Biedl syndrome Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome type 4 Senior-Loken syndrome 6
Reversed	1
HGVS	NC_000012.11:g.88480227C>A
CLNSRC
CLNACC	RCV000192446.1,