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rs7080536

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome10
Position113588287
GeneHABP2
is asnp
is mentioned by
dbSNPrs7080536
ebirs7080536
HLIrs7080536
Exacrs7080536
Varsomers7080536
Maprs7080536
PheGenIrs7080536
hapmaprs7080536
1000 genomesrs7080536
hgdprs7080536
ensemblrs7080536
gopubmedrs7080536
geneviewrs7080536
scholarrs7080536
googlers7080536
pharmgkbrs7080536
gwascentralrs7080536
openSNPrs7080536
23andMers7080536
23andMe allrs7080536
SNP Nexus

SNPshotrs7080536
SNPdbers7080536
MSV3drs7080536
GWAS Ctlgrs7080536
GMAF0.01377
Max Magnitude3

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 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 21789270OA-icon.png]
  • 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
OMIM603924
Desc
Variant0001
Relatedalso


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
Variation info
Gene HABP2
CLNDBN FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM Venous thromboembolism, susceptibility to THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO
Reversed 0
HGVS NC_000010.10:g.115348046G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006338.4, RCV000006340.4, RCV000190487.3,



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