rs119479062

Orientation

plus

Stabilized

plus

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

Make rs119479062(C;T)

Make rs119479062(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46411840

Gene

PCNT

is a	snp
is	mentioned by
dbSNP	rs119479062
dbSNP (classic)	rs119479062
ClinGen	rs119479062
ebi	rs119479062
HLI	rs119479062
Exac	rs119479062
Gnomad	rs119479062
Varsome	rs119479062
LitVar	rs119479062
Map	rs119479062
PheGenI	rs119479062
Biobank	rs119479062
1000 genomes	rs119479062
hgdp	rs119479062
ensembl	rs119479062
geneview	rs119479062
scholar	rs119479062
google	rs119479062
pharmgkb	rs119479062
gwascentral	rs119479062
openSNP	rs119479062
23andMe	rs119479062
SNPshot	rs119479062
SNPdbe	rs119479062
MSV3d	rs119479062
GWAS Ctlg	rs119479062

Max Magnitude

0

OMIM	605925
Desc
Variant	0004
Related	also

ClinVar
Risk	rs119479062(T;T)
Alt	rs119479062(T;T)
Reference	Rs119479062(C;C)
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.47831754C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004971.5,