rs748034744

Orientation

plus

Stabilized

plus

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

Make rs748034744(A;G)

Make rs748034744(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88111226

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs748034744
dbSNP (classic)	rs748034744
ClinGen	rs748034744
ebi	rs748034744
HLI	rs748034744
Exac	rs748034744
Gnomad	rs748034744
Varsome	rs748034744
LitVar	rs748034744
Map	rs748034744
PheGenI	rs748034744
Biobank	rs748034744
1000 genomes	rs748034744
hgdp	rs748034744
ensembl	rs748034744
geneview	rs748034744
scholar	rs748034744
google	rs748034744
pharmgkb	rs748034744
gwascentral	rs748034744
openSNP	rs748034744
23andMe	rs748034744
SNPshot	rs748034744
SNPdbe	rs748034744
MSV3d	rs748034744
GWAS Ctlg	rs748034744

Max Magnitude

0

ClinVar
Risk	rs748034744(G;G)
Alt	rs748034744(G;G)
Reference	Rs748034744(A;A)
Significance	Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5
Reversed	0
HGVS	NC_000012.11:g.88505003A>G
CLNSRC
CLNACC	RCV000201605.1,