rs7242
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs7242(G;G) |
| Make rs7242(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 101138164 |
| Gene | SERPINE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7242 |
| dbSNP (classic) | rs7242 |
| ClinGen | rs7242 |
| ebi | rs7242 |
| HLI | rs7242 |
| Exac | rs7242 |
| Gnomad | rs7242 |
| Varsome | rs7242 |
| LitVar | rs7242 |
| Map | rs7242 |
| PheGenI | rs7242 |
| Biobank | rs7242 |
| 1000 genomes | rs7242 |
| hgdp | rs7242 |
| ensembl | rs7242 |
| geneview | rs7242 |
| scholar | rs7242 |
| rs7242 | |
| pharmgkb | rs7242 |
| gwascentral | rs7242 |
| openSNP | rs7242 |
| 23andMe | rs7242 |
| SNPshot | rs7242 |
| SNPdbe | rs7242 |
| MSV3d | rs7242 |
| GWAS Ctlg | rs7242 |
| GMAF | 0.4371 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21291465] The association of genetic polymorphisms with cerebral palsy: a meta-analysis
[PMID 17656673] Association of plasminogen activator inhibitor (PAI)-1 (SERPINE1) SNPs with myocardial infarction, plasma PAI-1, and metabolic parameters: the HIFMECH study.
[PMID 18513389
] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19360663] Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 20403199] High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.
[PMID 24355042] Association of five common polymorphisms in the plasminogen activator inhibitor-1 gene with primary ovarian insufficiency
[PMID 25231632] Pai-1 Gene Variants and COC Use Are Associated with Stroke Risk: A Case-Control Study in the Han Chinese Women
| ClinVar | |
|---|---|
| Risk | rs7242(G;G) |
| Alt | rs7242(G;G) |
| Reference | Rs7242(T;T) |
| Significance | Non-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.100781445T>G |
| CLNSRC | |
| CLNACC | RCV000366344.1, |
