rs587784308

Orientation

plus

Stabilized

plus

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

Make rs587784308(G;T)

Make rs587784308(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

46402388

Gene

PCNT

is a	snp
is	mentioned by
dbSNP	rs587784308
dbSNP (classic)	rs587784308
ClinGen	rs587784308
ebi	rs587784308
HLI	rs587784308
Exac	rs587784308
Gnomad	rs587784308
Varsome	rs587784308
LitVar	rs587784308
Map	rs587784308
PheGenI	rs587784308
Biobank	rs587784308
1000 genomes	rs587784308
hgdp	rs587784308
ensembl	rs587784308
geneview	rs587784308
scholar	rs587784308
google	rs587784308
pharmgkb	rs587784308
gwascentral	rs587784308
openSNP	rs587784308
23andMe	rs587784308
SNPshot	rs587784308
SNPdbe	rs587784308
MSV3d	rs587784308
GWAS Ctlg	rs587784308

Max Magnitude

0

ClinVar
Risk	rs587784308(T;T)
Alt	rs587784308(T;T)
Reference	Rs587784308(G;G)
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.47822302G>T
CLNSRC
CLNACC	RCV000147141.1,