rs780624853

Orientation

plus

Stabilized

plus

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

Make rs780624853(-;-)

Make rs780624853(-;TTCT)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88084835

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs780624853
dbSNP (classic)	rs780624853
ClinGen	rs780624853
ebi	rs780624853
HLI	rs780624853
Exac	rs780624853
Gnomad	rs780624853
Varsome	rs780624853
LitVar	rs780624853
Map	rs780624853
PheGenI	rs780624853
Biobank	rs780624853
1000 genomes	rs780624853
hgdp	rs780624853
ensembl	rs780624853
geneview	rs780624853
scholar	rs780624853
google	rs780624853
pharmgkb	rs780624853
gwascentral	rs780624853
openSNP	rs780624853
23andMe	rs780624853
SNPshot	rs780624853
SNPdbe	rs780624853
MSV3d	rs780624853
GWAS Ctlg	rs780624853

Max Magnitude

0

ClinVar
Risk	rs780624853(-;-)
Alt	rs780624853(-;-)
Reference	Rs780624853(TTCT;TTCT)
Significance	Pathogenic
Disease	Joubert syndrome 5
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome 5
Reversed	0
HGVS	NC_000012.11:g.88478612_88478615delTTCT
CLNSRC
CLNACC	RCV000201704.1,