rs758550675

Orientation

plus

Stabilized

plus

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

Make rs758550675(-;-)

Make rs758550675(-;TGAG)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88140969

Gene	CEP290, TMTC3

is a	snp
is	mentioned by
dbSNP	rs758550675
dbSNP (classic)	rs758550675
ClinGen	rs758550675
ebi	rs758550675
HLI	rs758550675
Exac	rs758550675
Gnomad	rs758550675
Varsome	rs758550675
LitVar	rs758550675
Map	rs758550675
PheGenI	rs758550675
Biobank	rs758550675
1000 genomes	rs758550675
hgdp	rs758550675
ensembl	rs758550675
geneview	rs758550675
scholar	rs758550675
google	rs758550675
pharmgkb	rs758550675
gwascentral	rs758550675
openSNP	rs758550675
23andMe	rs758550675
SNPshot	rs758550675
SNPdbe	rs758550675
MSV3d	rs758550675
GWAS Ctlg	rs758550675

Max Magnitude

0

ClinVar
Risk	rs758550675(-;-)
Alt	rs758550675(-;-)
Reference	Rs758550675(TGAG;TGAG)
Significance	Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290 TMTC3
CLNDBN	Joubert syndrome 5
Reversed	0
HGVS	NC_000012.11:g.88534746_88534749delTGAG
CLNSRC
CLNACC	RCV000201609.1,