rs397514033

Orientation

plus

Stabilized

plus

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

Make rs397514033(-;T)

Make rs397514033(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46388845

Gene

PCNT

is a	snp
is	mentioned by
dbSNP	rs397514033
dbSNP (classic)	rs397514033
ClinGen	rs397514033
ebi	rs397514033
HLI	rs397514033
Exac	rs397514033
Gnomad	rs397514033
Varsome	rs397514033
LitVar	rs397514033
Map	rs397514033
PheGenI	rs397514033
Biobank	rs397514033
1000 genomes	rs397514033
hgdp	rs397514033
ensembl	rs397514033
geneview	rs397514033
scholar	rs397514033
google	rs397514033
pharmgkb	rs397514033
gwascentral	rs397514033
openSNP	rs397514033
23andMe	rs397514033
SNPshot	rs397514033
SNPdbe	rs397514033
MSV3d	rs397514033
GWAS Ctlg	rs397514033

Max Magnitude

0

ClinVar
Risk	rs397514033(T;T)
Alt	rs397514033(T;T)
Reference	Rs397514033(-;-)
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.47808760dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004970.7,