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rs2227589

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0
Make rs2227589(A;A)
Make rs2227589(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position173917078
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs2227589
dbSNP (classic)rs2227589
ClinGenrs2227589
ebirs2227589
HLIrs2227589
Exacrs2227589
Gnomadrs2227589
Varsomers2227589
LitVarrs2227589
Maprs2227589
PheGenIrs2227589
Biobankrs2227589
1000 genomesrs2227589
hgdprs2227589
ensemblrs2227589
geneviewrs2227589
scholarrs2227589
googlers2227589
pharmgkbrs2227589
gwascentralrs2227589
openSNPrs2227589
23andMers2227589
SNPshotrs2227589
SNPdbers2227589
MSV3drs2227589
GWAS Ctlgrs2227589
GMAF0.1253
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Gene variants associated with deep vein thrombosis.[PMID 18349091]

Updated analysis of gene variants associated with deep vein thrombosis.[PMID 20124536]

rs2227589 in SERPINC1 (risk allele frequency, 0.10) OR 1.29 (95% CI, 1.10-1.49)

[PMID 19229049OA-icon.png] associated with plasma anti-FXa activity and antithrombin levels: carriers of the A allele had slightly but significantly lower anticoagulant activity and levels than GG subjects (97.0+/-7.3% vs. 94.6+/-8.4%; p=0.032; 99.5+/-5.8% vs. 94.8+/-5.6%; p=0.001; respectively)


[PMID 20031567OA-icon.png] An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.


[PMID 21232005OA-icon.png] New gene variants associated with venous thrombosis: a replication study in White and Black Americans.


[PMID 23150947] Single nucleotide polymorphisms and the risk of venous thrombosis: results from a Danish case-cohort study


[PMID 23252292] [Correlation of coronary heart disease with multiple genes, gene polymorphisms and multiple risk factors in old Chinese Han patients]


[PMID 23954867] The association of idiopathic recurrent pregnancy loss with polymorphisms in haemostasis-related genes


[PMID 24226152] Influence of single nucleotide polymorphisms on thrombin generation in factor V Leiden heterozygotes


[PMID 25091233] Association of F11 polymorphism rs2289252 with deep vein thrombosis and related phenotypes in population of Latvia


[PMID 25811371OA-icon.png] Antithrombin III Deficiency in Indian Patients with Deep Vein Thrombosis: Identification of First India Based AT Variants Including a Novel Point Mutation (T280A) that Leads to Aggregation