rs119479063

Orientation

plus

Stabilized

plus

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

Make rs119479063(G;T)

Make rs119479063(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

46367083

Gene

PCNT

is a	snp
is	mentioned by
dbSNP	rs119479063
dbSNP (classic)	rs119479063
ClinGen	rs119479063
ebi	rs119479063
HLI	rs119479063
Exac	rs119479063
Gnomad	rs119479063
Varsome	rs119479063
LitVar	rs119479063
Map	rs119479063
PheGenI	rs119479063
Biobank	rs119479063
1000 genomes	rs119479063
hgdp	rs119479063
ensembl	rs119479063
geneview	rs119479063
scholar	rs119479063
google	rs119479063
pharmgkb	rs119479063
gwascentral	rs119479063
openSNP	rs119479063
23andMe	rs119479063
SNPshot	rs119479063
SNPdbe	rs119479063
MSV3d	rs119479063
GWAS Ctlg	rs119479063

Max Magnitude

0

OMIM	605925
Desc
Variant	0006
Related	also

ClinVar
Risk	rs119479063(A;A) rs119479063(T;T)
Alt	rs119479063(A;A) rs119479063(T;T)
Reference	Rs119479063(G;G)
Significance	Pathogenic
Disease	Microcephalic osteodysplastic primordial dwarfism type 2 not provided
Variation	info
Gene	PCNT
CLNDBN	Microcephalic osteodysplastic primordial dwarfism type 2 not provided
Reversed	0
HGVS	NC_000021.8:g.47786998G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004973.4, RCV000351291.1,