rs7080536

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	3	significant increase (2 - 6x?) in risk possible for carotid stenosis, stroke and venous thromboembolism
(A;G)	2.1	~2x higher risk for carotid stenosis, venous thromboembolism
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

10

Position

113588287

Gene

HABP2

is a	snp
is	mentioned by
dbSNP	rs7080536
dbSNP (classic)	rs7080536
ClinGen	rs7080536
ebi	rs7080536
HLI	rs7080536
Exac	rs7080536
Gnomad	rs7080536
Varsome	rs7080536
LitVar	rs7080536
Map	rs7080536
PheGenI	rs7080536
Biobank	rs7080536
1000 genomes	rs7080536
hgdp	rs7080536
ensembl	rs7080536
geneview	rs7080536
scholar	rs7080536
google	rs7080536
pharmgkb	rs7080536
gwascentral	rs7080536
openSNP	rs7080536
23andMe	rs7080536
SNPshot	rs7080536
SNPdbe	rs7080536
MSV3d	rs7080536
GWAS Ctlg	rs7080536

GMAF

0.01377

Max Magnitude

3

rs7080536, also known as c.1601G>A, p.Gly534Glu and G534E, is a variant in the HABP2 gene on chromosome 10. Originally noticed in a group of individuals from Marburg, Germany, the rs7080536(A) allele and corresponding variant protein is also known as the Marburg I (MI) variant. The HBAP2 gene may also be referred to as FSAP (Factor VII Activating Protein or Protease) in some texts.

The rs7080536(A) allele is associated as a risk factor for several conditions, including:

• Carotid stenosis
  • A study of 800+ individuals found odds ratio of 6.6 [CI:1.6 - 27.7].[PMID 12578864]

• Clinical stroke
  • A study of 8,000 individuals concluded that the Marburg I polymorphism was associated with an increased risk of clinical stroke (HR 1.60, CI: 1.13-2.28) and all-cause mortality (HR 1.33, CI: 1.04-1.71).[PMID 21789270]

• Venous Thromboembolism (VTE)
  • In a relatively small study (300 patients, 200 controls), the Marburg I variant was seen as an independent risk factor for VTE (OR 3.5, CI: 1.2-10.0) and also idiopathic VTE (OR 6.2, CI: 2.0-18.9).[PMID 15486068]
  • A larger study of ~900 patients determined that the Marburg I variant was associated with the development of deep venous thrombosis (OR 1.65, CI:1.16-2.34) and recurrent thromboembolic events (OR 2.13, CI; 1.35-3.36) OR (95% CI). [PMID 22421107]

• Familial Nonmedullary Thyroid cancer
  • Carriers of a Marburg I variant have about a 2x higher risk for thyroid cancer based on a study of 400+ patients. Functional studies indicated that the HABP2 protein may normally have a tumor-suppressive effect, but the G534E variant results in a loss of that function.[PMID 26222560]

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

OMIM	603924
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs7080536(A;A)
Alt	Rs7080536(A;A)
Reference	Rs7080536(G;G)
Significance	Other
Disease	FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM Venous thromboembolism THYROID CANCER Factor VII Marburg I Variant Thrombophilia
Variation	info
Gene	HABP2
CLNDBN	FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM Venous thromboembolism, susceptibility to THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO Factor VII Marburg I Variant Thrombophilia
Reversed	0
HGVS	NC_000010.10:g.115348046G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006338.4, RCV000006340.4, RCV000190487.3, RCV000286268.1,

[PMID 26691890] The HABP2 G534E variant is an unlikely cause of familial non-medullary thyroid cancer.