rs5907

Orientation

plus

Stabilized

plus

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

Make rs5907(A;A)

Make rs5907(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

20779935

Gene	PI4KA, SERPIND1

is a	snp
is	mentioned by
dbSNP	rs5907
dbSNP (classic)	rs5907
ClinGen	rs5907
ebi	rs5907
HLI	rs5907
Exac	rs5907
Gnomad	rs5907
Varsome	rs5907
LitVar	rs5907
Map	rs5907
PheGenI	rs5907
Biobank	rs5907
1000 genomes	rs5907
hgdp	rs5907
ensembl	rs5907
geneview	rs5907
scholar	rs5907
google	rs5907
pharmgkb	rs5907
gwascentral	rs5907
openSNP	rs5907
23andMe	rs5907
SNPshot	rs5907
SNPdbe	rs5907
MSV3d	rs5907
GWAS Ctlg	rs5907

GMAF

0.001837

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	142360
Desc	HEPARIN COFACTOR II DEFICIENCY
Variant	0001
Related	also

ClinVar
Risk	rs5907(A;A)
Alt	rs5907(A;A)
Reference	Rs5907(G;G)
Significance	Pathogenic
Disease	Heparin cofactor II deficiency
Variation	info
Gene	SERPIND1 PI4KA
CLNDBN	Heparin cofactor II deficiency
Reversed	0
HGVS	NC_000022.10:g.21134223G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000016092.26,