rs797045875

Orientation

plus

Stabilized

plus

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

Make rs797045875(-;-)

Make rs797045875(-;AAAG)

Make rs797045875(AAAG;AAAG)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

46354021

Gene

PCNT

is a	snp
is	mentioned by
dbSNP	rs797045875
dbSNP (classic)	rs797045875
ClinGen	rs797045875
ebi	rs797045875
HLI	rs797045875
Exac	rs797045875
Gnomad	rs797045875
Varsome	rs797045875
LitVar	rs797045875
Map	rs797045875
PheGenI	rs797045875
Biobank	rs797045875
1000 genomes	rs797045875
hgdp	rs797045875
ensembl	rs797045875
geneview	rs797045875
scholar	rs797045875
google	rs797045875
pharmgkb	rs797045875
gwascentral	rs797045875
openSNP	rs797045875
23andMe	rs797045875
SNPshot	rs797045875
SNPdbe	rs797045875
MSV3d	rs797045875
GWAS Ctlg	rs797045875

Max Magnitude

0

ClinVar
Risk	rs797045875(-;-)
Alt	rs797045875(-;-)
Reference	Rs797045875(AGAA;AGAA)
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.47773935_47773938delAAAG
CLNSRC
CLNACC	RCV000193825.1,