rs119479061

Orientation

plus

Stabilized

plus

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

Make rs119479061(G;T)

Make rs119479061(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46346146

Gene

PCNT

is a	snp
is	mentioned by
dbSNP	rs119479061
dbSNP (classic)	rs119479061
ClinGen	rs119479061
ebi	rs119479061
HLI	rs119479061
Exac	rs119479061
Gnomad	rs119479061
Varsome	rs119479061
LitVar	rs119479061
Map	rs119479061
PheGenI	rs119479061
Biobank	rs119479061
1000 genomes	rs119479061
hgdp	rs119479061
ensembl	rs119479061
geneview	rs119479061
scholar	rs119479061
google	rs119479061
pharmgkb	rs119479061
gwascentral	rs119479061
openSNP	rs119479061
23andMe	rs119479061
SNPshot	rs119479061
SNPdbe	rs119479061
MSV3d	rs119479061
GWAS Ctlg	rs119479061

Max Magnitude

0

OMIM	605925
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119479061(T;T)
Alt	rs119479061(T;T)
Reference	Rs119479061(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.47766060G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004968.7,