rs370119681

Orientation

plus

Stabilized

plus

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

Make rs370119681(A;A)

Make rs370119681(A;C)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88080226

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs370119681
dbSNP (classic)	rs370119681
ClinGen	rs370119681
ebi	rs370119681
HLI	rs370119681
Exac	rs370119681
Gnomad	rs370119681
Varsome	rs370119681
LitVar	rs370119681
Map	rs370119681
PheGenI	rs370119681
Biobank	rs370119681
1000 genomes	rs370119681
hgdp	rs370119681
ensembl	rs370119681
geneview	rs370119681
scholar	rs370119681
google	rs370119681
pharmgkb	rs370119681
gwascentral	rs370119681
openSNP	rs370119681
23andMe	rs370119681
SNPshot	rs370119681
SNPdbe	rs370119681
MSV3d	rs370119681
GWAS Ctlg	rs370119681

Max Magnitude

0

ClinVar
Risk	rs370119681(A;A)
Alt	rs370119681(A;A)
Reference	Rs370119681(C;C)
Significance	Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5
Reversed	0
HGVS	NC_000012.11:g.88474003C>A
CLNSRC
CLNACC	RCV000177953.1,