rs267606719

Orientation

minus

Stabilized

minus

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

Make rs267606719(G;T)

Make rs267606719(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88077227

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs267606719
dbSNP (classic)	rs267606719
ClinGen	rs267606719
ebi	rs267606719
HLI	rs267606719
Exac	rs267606719
Gnomad	rs267606719
Varsome	rs267606719
LitVar	rs267606719
Map	rs267606719
PheGenI	rs267606719
Biobank	rs267606719
1000 genomes	rs267606719
hgdp	rs267606719
ensembl	rs267606719
geneview	rs267606719
scholar	rs267606719
google	rs267606719
pharmgkb	rs267606719
gwascentral	rs267606719
openSNP	rs267606719
23andMe	rs267606719
SNPshot	rs267606719
SNPdbe	rs267606719
MSV3d	rs267606719
GWAS Ctlg	rs267606719

Max Magnitude

0

ClinVar
Risk	rs267606719(T;T)
Alt	rs267606719(T;T)
Reference	Rs267606719(G;G)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 14 Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Bardet-Biedl syndrome 14 Joubert syndrome 5
Reversed	1
HGVS	NC_000012.11:g.88471004C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001410.5, RCV000201631.1,