rs371525247

Orientation

plus

Stabilized

plus

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

Make rs371525247(A;A)

Make rs371525247(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88071373

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs371525247
dbSNP (classic)	rs371525247
ClinGen	rs371525247
ebi	rs371525247
HLI	rs371525247
Exac	rs371525247
Gnomad	rs371525247
Varsome	rs371525247
LitVar	rs371525247
Map	rs371525247
PheGenI	rs371525247
Biobank	rs371525247
1000 genomes	rs371525247
hgdp	rs371525247
ensembl	rs371525247
geneview	rs371525247
scholar	rs371525247
google	rs371525247
pharmgkb	rs371525247
gwascentral	rs371525247
openSNP	rs371525247
23andMe	rs371525247
SNPshot	rs371525247
SNPdbe	rs371525247
MSV3d	rs371525247
GWAS Ctlg	rs371525247

Max Magnitude

0

ClinVar
Risk	rs371525247(A;A)
Alt	rs371525247(A;A)
Reference	Rs371525247(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5
Reversed	0
HGVS	NC_000012.11:g.88465150G>A
CLNSRC
CLNACC	RCV000201627.1,