rs797045454

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AG;AG)	0	common in clinvar
(GA;GA)	0	common in clinvar

Make rs797045454(-;-)

Make rs797045454(-;AG)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

24908094

Gene

CENPJ

is a	snp
is	mentioned by
dbSNP	rs797045454
dbSNP (classic)	rs797045454
ClinGen	rs797045454
ebi	rs797045454
HLI	rs797045454
Exac	rs797045454
Gnomad	rs797045454
Varsome	rs797045454
LitVar	rs797045454
Map	rs797045454
PheGenI	rs797045454
Biobank	rs797045454
1000 genomes	rs797045454
hgdp	rs797045454
ensembl	rs797045454
geneview	rs797045454
scholar	rs797045454
google	rs797045454
pharmgkb	rs797045454
gwascentral	rs797045454
openSNP	rs797045454
23andMe	rs797045454
SNPshot	rs797045454
SNPdbe	rs797045454
MSV3d	rs797045454
GWAS Ctlg	rs797045454

Max Magnitude

0

ClinVar
Risk	Rs797045454(GA;GA) rs797045454(-;-)
Alt	Rs797045454(GA;GA) rs797045454(-;-)
Reference	Rs797045454(AG;AG)
Significance	Pathogenic
Disease	Seckel syndrome 4
Variation	info
Gene	CENPJ
CLNDBN	Seckel syndrome 4
Reversed	1
HGVS	NC_000013.10:g.25482232_25482233delCT
CLNSRC
CLNACC	RCV000193152.1,