rs587784312

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CCTGGCAGCC;CCTGGCAGCC)	0	common in clinvar
(GCAGCCCCTG;GCAGCCCCTG)	0	common in clinvar

Make rs587784312(-;-)

Make rs587784312(-;CCTGGCAGCC)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

46411800

Gene

PCNT

is a	snp
is	mentioned by
dbSNP	rs587784312
dbSNP (classic)	rs587784312
ClinGen	rs587784312
ebi	rs587784312
HLI	rs587784312
Exac	rs587784312
Gnomad	rs587784312
Varsome	rs587784312
LitVar	rs587784312
Map	rs587784312
PheGenI	rs587784312
Biobank	rs587784312
1000 genomes	rs587784312
hgdp	rs587784312
ensembl	rs587784312
geneview	rs587784312
scholar	rs587784312
google	rs587784312
pharmgkb	rs587784312
gwascentral	rs587784312
openSNP	rs587784312
23andMe	rs587784312
SNPshot	rs587784312
SNPdbe	rs587784312
MSV3d	rs587784312
GWAS Ctlg	rs587784312

Max Magnitude

0

ClinVar
Risk	rs587784312(-;-) Rs587784312(GCAGCCCCTG;GCAGCCCCTG)
Alt	rs587784312(-;-) Rs587784312(GCAGCCCCTG;GCAGCCCCTG)
Reference	Rs587784312(CCTGGCAGCC;CCTGGCAGCC)
Significance	Pathogenic
Disease	Microcephalic osteodysplastic primordial dwarfism type 2
Variation	info
Gene	PCNT
CLNDBN	Microcephalic osteodysplastic primordial dwarfism type 2
Reversed	0
HGVS	NC_000021.8:g.47831714_47831723delCCTGGCAGCC
CLNSRC
CLNACC	RCV000147153.1,