rs587784302

Orientation

plus

Stabilized

plus

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

Make rs587784302(-;-)

Make rs587784302(-;CAGACTTTGAG)

Make rs587784302(CAGACTTTGAG;CAGACTTTGAG)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

46366958

Gene

PCNT

is a	snp
is	mentioned by
dbSNP	rs587784302
dbSNP (classic)	rs587784302
ClinGen	rs587784302
ebi	rs587784302
HLI	rs587784302
Exac	rs587784302
Gnomad	rs587784302
Varsome	rs587784302
LitVar	rs587784302
Map	rs587784302
PheGenI	rs587784302
Biobank	rs587784302
1000 genomes	rs587784302
hgdp	rs587784302
ensembl	rs587784302
geneview	rs587784302
scholar	rs587784302
google	rs587784302
pharmgkb	rs587784302
gwascentral	rs587784302
openSNP	rs587784302
23andMe	rs587784302
SNPshot	rs587784302
SNPdbe	rs587784302
MSV3d	rs587784302
GWAS Ctlg	rs587784302

Max Magnitude

0

ClinVar
Risk	rs587784302(-;-)
Alt	rs587784302(-;-)
Reference	Rs587784302(GAGCAGACTTT;GAGCAGACTTT)
Significance	Pathogenic
Disease	Microcephalic osteodysplastic primordial dwarfism type 2 not provided
Variation	info
Gene	PCNT
CLNDBN	Microcephalic osteodysplastic primordial dwarfism type 2 not provided
Reversed	0
HGVS	NC_000021.8:g.47786873_47786883delCAGACTTTGAG
CLNSRC
CLNACC	RCV000147105.2, RCV000296415.1,