rs28928872

Orientation

minus

Stabilized

minus

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

Make rs28928872(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

85551919

Gene

GGCX

is a	snp
is	mentioned by
dbSNP	rs28928872
dbSNP (classic)	rs28928872
ClinGen	rs28928872
ebi	rs28928872
HLI	rs28928872
Exac	rs28928872
Gnomad	rs28928872
Varsome	rs28928872
LitVar	rs28928872
Map	rs28928872
PheGenI	rs28928872
Biobank	rs28928872
1000 genomes	rs28928872
hgdp	rs28928872
ensembl	rs28928872
geneview	rs28928872
scholar	rs28928872
google	rs28928872
pharmgkb	rs28928872
gwascentral	rs28928872
openSNP	rs28928872
23andMe	rs28928872
SNPshot	rs28928872
SNPdbe	rs28928872
MSV3d	rs28928872
GWAS Ctlg	rs28928872

Max Magnitude

0

OMIM	137167
Desc	VITAMIN K-DEPENDENT COAGULATION DEFECT
Variant	0002
Related	also

ClinVar
Risk	Rs28928872(C;C)
Alt	Rs28928872(C;C)
Reference	Rs28928872(G;G)
Significance	Pathogenic
Disease	Vitamin k-dependent clotting factors
Variation	info
Gene	GGCX
CLNDBN	Vitamin k-dependent clotting factors, combined deficiency of, 1
Reversed	1
HGVS	NC_000002.11:g.85779042C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017579.28,