rs119479064

Orientation

plus

Stabilized

plus

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

Make rs119479064(C;T)

Make rs119479064(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46435904

Gene

PCNT

is a	snp
is	mentioned by
dbSNP	rs119479064
dbSNP (classic)	rs119479064
ClinGen	rs119479064
ebi	rs119479064
HLI	rs119479064
Exac	rs119479064
Gnomad	rs119479064
Varsome	rs119479064
LitVar	rs119479064
Map	rs119479064
PheGenI	rs119479064
Biobank	rs119479064
1000 genomes	rs119479064
hgdp	rs119479064
ensembl	rs119479064
geneview	rs119479064
scholar	rs119479064
google	rs119479064
pharmgkb	rs119479064
gwascentral	rs119479064
openSNP	rs119479064
23andMe	rs119479064
SNPshot	rs119479064
SNPdbe	rs119479064
MSV3d	rs119479064
GWAS Ctlg	rs119479064

Max Magnitude

0

OMIM	605925
Desc
Variant	0008
Related	also

ClinVar
Risk	rs119479064(T;T)
Alt	rs119479064(T;T)
Reference	Rs119479064(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.47855817C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004975.4,