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rs6092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs6092(A;A)
Make rs6092(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position101128436
GeneSERPINE1
is asnp
is mentioned by
dbSNPrs6092
ebirs6092
HLIrs6092
Exacrs6092
Varsomers6092
Maprs6092
PheGenIrs6092
hapmaprs6092
1000 genomesrs6092
hgdprs6092
ensemblrs6092
gopubmedrs6092
geneviewrs6092
scholarrs6092
googlers6092
pharmgkbrs6092
gwascentralrs6092
openSNPrs6092
23andMers6092
23andMe allrs6092
SNP Nexus

SNPshotrs6092
SNPdbers6092
MSV3drs6092
GWAS Ctlgrs6092
GMAF0.07208
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SERPINE1
allele A
frequency
sift TOLERATED
HuRef 1103652657987
Disease Association High concentrations of PAI-1 have been associated with thrombophilia (MIM:188050); an autosomal dominant disorder in which affected individuals are prone to develop serious spontaneous thrombosis.


OMIM173360
Desc
Variant0003
Relatedalso
[PMID 15772559] Plasminogen-activator inhibitor-1 polymorphisms are associated with obesity and fat distribution in the Quebec Family Study: evidence of interactions with menopause.

[PMID 17656673] Association of plasminogen activator inhibitor (PAI)-1 (SERPINE1) SNPs with myocardial infarction, plasma PAI-1, and metabolic parameters: the HIFMECH study.

[PMID 17761618OA-icon.png] 4G/5G plasminogen activator inhibitor-1 polymorphisms and haplotypes are associated with pneumonia.

[PMID 18285546OA-icon.png] A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group.

[PMID 18794724] Plasminogen activator inhibitor-1 gene is associated with major depression and antidepressant treatment response.

[PMID 19360663OA-icon.png] Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder.

[PMID 20127289] Contribution of genetic and metabolic syndrome to omental adipose tissue PAI-1 gene mRNA and plasma levels in obesity.

GET Evidence
SERPINE1-A15T
aa_change Ala15Thr
aa_change_short A15T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0839375
summary


ClinVar
Risk rs6092(A;A)
Alt rs6092(A;A)
Reference rs6092(G;G)
Significance Pathogenic
Disease Plasminogen activator inhibitor type 1 deficiency
Variation info
Gene SERPINE1
CLNDBN Plasminogen activator inhibitor type 1 deficiency
Reversed 0
HGVS NC_000007.13:g.100771717G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014541.25,



[PMID 24355042] Association of five common polymorphisms in the plasminogen activator inhibitor-1 gene with primary ovarian insufficiency