{{Rsnum
|rsid=6092
|Gene=SERPINE1
|Chromosome=7
|position=101128436
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.07208
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SERPINE1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 21.5 | 78.5
| HCB | 8.9 | 24.4 | 66.7
| JPT | 0.0 | 18.2 | 81.8
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 8.9 | 24.4 | 66.7
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=6092
|allele=A
|frequency=
|uid=1103652657987
|type=heterozygous_SNP
|hugo=SERPINE1
|ensembl gene=ENSG00000106366
|ensembl transcript=ENST00000223095
|sift=TOLERATED
|disease=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.
}}
{{omim
|id=173360
|rsnum=6092
|variant=0003
}}{{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|17761618|OA=1
}} 4G/5G plasminogen activator inhibitor-1 polymorphisms and haplotypes are associated with pneumonia.

{{PMID|18285546|OA=1
}} 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|19360663|OA=1
}} 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
|gene=SERPINE1
|aa_change=Ala15Thr
|aa_change_short=A15T
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6092
|overall_frequency_n=903
|overall_frequency_d=10758
|overall_frequency=0.0839375
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=9
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.002
|genetests_testable=Y
|nblosum100=1
|autoscore=2
|n_web_uneval=3
}}{{ClinVar
|ALT=A
|CAF=0.9279; 0.07208
|CHROM=7
|CLNACC=RCV000014541.23
|CLNALLE=1
|CLNDBN=Plasminogen activator inhibitor type 1 deficiency
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C2750067:613329:465
|CLNHGVS=NC_000007.13:g.100771717G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=173360.0003
|COMMON=1
|Disease=Plasminogen activator inhibitor type 1 deficiency
|FwdALT=A
|FwdREF=G
|GENEINFO=SERPINE1:5054
|GENE_ID=5054
|GENE_NAME=SERPINE1
|REF=G
|RSPOS=100771717
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|VC=SNV
|VP=0x05036800000015051f110101
|WGT=0
|dbSNPBuildID=52
|rsid=6092
}}
{{PMID Auto
|PMID=24355042
|Title=Association of five common polymorphisms in the plasminogen activator inhibitor-1 gene with primary ovarian insufficiency
}}