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rs1042579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1042579(C;T)
Make rs1042579(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position23048087
GeneTHBD
is asnp
is mentioned by
dbSNPrs1042579
dbSNP (old)rs1042579
ClinGenrs1042579
ebirs1042579
HLIrs1042579
Exacrs1042579
Varsomers1042579
Maprs1042579
PheGenIrs1042579
Biobankrs1042579
1000 genomesrs1042579
hgdprs1042579
ensemblrs1042579
gopubmedrs1042579
geneviewrs1042579
scholarrs1042579
googlers1042579
pharmgkbrs1042579
gwascentralrs1042579
openSNPrs1042579
23andMers1042579
23andMe allrs1042579
SNP Nexus

SNPshotrs1042579
SNPdbers1042579
MSV3drs1042579
GWAS Ctlgrs1042579
GMAF0.1648
Max Magnitude0
Venter snp
Source plos
Gene THBD
allele A
frequency
sift TOLERATED
HuRef 1103643180257
Disease Association 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 21911804OA-icon.png] Thrombomodulin gene variants are associated with increased mortality after coronary artery bypass surgery in replicated analyses


[PMID 16820586OA-icon.png] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.


[PMID 17677000OA-icon.png] Combined effects of thrombosis pathway gene variants predict cardiovascular events.


[PMID 18035074OA-icon.png] Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction.


GET Evidence
THBD-A473V
aa_change Ala473Val
aa_change_short A473V
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.140387
summary While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well.



[PMID 25225421] Single-Nucleotide Polymorphisms Within the Thrombomodulin Gene (THBD) Predict Mortality in Patients With Graft-Versus-Host Disease


ClinVar
Risk rs1042579(T;T)
Alt rs1042579(T;T)
Reference Rs1042579(C;C)
Significance Non-pathogenic
Disease Atypical hemolytic uremic syndrome
Variation info
Gene THBD
CLNDBN Atypical hemolytic uremic syndrome
Reversed 1
HGVS NC_000020.10:g.23028724G>A
CLNSRC
CLNACC RCV000302594.1,