{{Rsnum
|rsid=1042579
|Gene=THBD
|Chromosome=20
|position=23048087
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.1648
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=THBD
}}{{Venter SNP
|rsid=1042579
|allele=A
|frequency=
|uid=1103643180257
|type=heterozygous_SNP
|hugo=THBD
|ensembl gene=ENSG00000178726
|ensembl transcript=ENST00000377103
|sift=TOLERATED
|disease=Defects in THBD may be a cause of thromboembolic disease (TED) (MIM:188040); also called inherited thrombophilia. Patients with TED have defects of the haemopoietic system which creates a tendency to the occurrence of thrombosis. TED plays an important role in the pathogenesis of various cardiovascular disorders.
}}

{{PMID Auto
|PMID=21911804
|Title=Thrombomodulin gene variants are associated with increased mortality after coronary artery bypass surgery in replicated analyses
|OA=1
}}

{{PMID Auto
|PMID=16820586
|Title=Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.
|OA=1
}}

{{PMID Auto
|PMID=17677000
|Title=Combined effects of thrombosis pathway gene variants predict cardiovascular events.
|OA=1
}}

{{PMID Auto
|PMID=18035074
|Title=Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction.
}}

{{GET Evidence
|gene=THBD
|aa_change=Ala473Val
|aa_change_short=A473V
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042579
|overall_frequency_n=1510
|overall_frequency_d=10756
|overall_frequency=0.140387
|n_genomes=13
|n_genomes_annotated=0
|n_haplomes=15
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=3
|n_web_uneval=2
}}

{{PMID Auto
|PMID=25225421
|Title=Single-Nucleotide Polymorphisms Within the Thrombomodulin Gene (THBD) Predict Mortality in Patients With Graft-Versus-Host Disease
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}