rs575767207

Orientation

plus

Stabilized

plus

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

Make rs575767207(A;A)

Make rs575767207(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88079112

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs575767207
dbSNP (classic)	rs575767207
ClinGen	rs575767207
ebi	rs575767207
HLI	rs575767207
Exac	rs575767207
Gnomad	rs575767207
Varsome	rs575767207
LitVar	rs575767207
Map	rs575767207
PheGenI	rs575767207
Biobank	rs575767207
1000 genomes	rs575767207
hgdp	rs575767207
ensembl	rs575767207
geneview	rs575767207
scholar	rs575767207
google	rs575767207
pharmgkb	rs575767207
gwascentral	rs575767207
openSNP	rs575767207
23andMe	rs575767207
SNPshot	rs575767207
SNPdbe	rs575767207
MSV3d	rs575767207
GWAS Ctlg	rs575767207

Max Magnitude

0

ClinVar
Risk	rs575767207(A;A)
Alt	rs575767207(A;A)
Reference	Rs575767207(G;G)
Significance	Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5
Reversed	0
HGVS	NC_000012.11:g.88472889G>A
CLNSRC
CLNACC	RCV000201766.1,