rs749439750

Orientation

plus

Stabilized

plus

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

Make rs749439750(A;A)

Make rs749439750(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88084768

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs749439750
dbSNP (classic)	rs749439750
ClinGen	rs749439750
ebi	rs749439750
HLI	rs749439750
Exac	rs749439750
Gnomad	rs749439750
Varsome	rs749439750
LitVar	rs749439750
Map	rs749439750
PheGenI	rs749439750
Biobank	rs749439750
1000 genomes	rs749439750
hgdp	rs749439750
ensembl	rs749439750
geneview	rs749439750
scholar	rs749439750
google	rs749439750
pharmgkb	rs749439750
gwascentral	rs749439750
openSNP	rs749439750
23andMe	rs749439750
SNPshot	rs749439750
SNPdbe	rs749439750
MSV3d	rs749439750
GWAS Ctlg	rs749439750

Max Magnitude

0

ClinVar
Risk	rs749439750(A;A)
Alt	rs749439750(A;A)
Reference	Rs749439750(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5
Reversed	0
HGVS	NC_000012.11:g.88478545G>A
CLNSRC
CLNACC	RCV000201597.1,