rs2073658
| Orientation | minus |
| Stabilized | minus |
| Make rs2073658(A;A) |
| Make rs2073658(A;G) |
| Make rs2073658(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 161040972 |
| Gene | TSTD1, USF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2073658 |
| dbSNP (classic) | rs2073658 |
| ClinGen | rs2073658 |
| ebi | rs2073658 |
| HLI | rs2073658 |
| Exac | rs2073658 |
| Gnomad | rs2073658 |
| Varsome | rs2073658 |
| LitVar | rs2073658 |
| Map | rs2073658 |
| PheGenI | rs2073658 |
| Biobank | rs2073658 |
| 1000 genomes | rs2073658 |
| hgdp | rs2073658 |
| ensembl | rs2073658 |
| geneview | rs2073658 |
| scholar | rs2073658 |
| rs2073658 | |
| pharmgkb | rs2073658 |
| gwascentral | rs2073658 |
| openSNP | rs2073658 |
| 23andMe | rs2073658 |
| SNPshot | rs2073658 |
| SNPdbe | rs2073658 |
| MSV3d | rs2073658 |
| GWAS Ctlg | rs2073658 |
| GMAF | 0.2158 |
| Max Magnitude | 0 |
[PMID 18097648] rs2073658 a borderline association with metabolic syndrome was observed (p = 0.036, IDF), the minor allele being the risk-increasing allele. The minor allele of rs2073658 also associated with higher total and LDL-cholesterol, apolipoprotein B-100 and lipoprotein(a) concentrations in longitudinal analyses.
[PMID 18445538] rs2073658 is associated with a modestly increased risk to develop type 2 diabetes in Dutch Caucasians, with considerable impact at the population level.
[PMID 20031629] Functional Variant Disrupts Insulin Induction of USF1: Mechanism for USF1-Associated Dyslipidemias
[PMID 22460558] Potential Role of Upstream Stimulatory Factor 1 Gene Variant in Familial Combined Hyperlipidemia and Related Disorders
[PMID 15657872
] Association testing in a linked region using large pedigrees.
[PMID 15959806] Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides.
[PMID 15976322] Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1.
[PMID 16186412] Common polymorphisms in the USF1 gene are not associated with type 2 diabetes in French Caucasians.
[PMID 16699592] Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies.
[PMID 18276913] Association analysis of allelic variants of USF1 in coronary atherosclerosis.
[PMID 18303204] Body mass index is associated with USF1 haplotype in Korean premenopausal women.
[PMID 18974842] Gender differences in genetic risk profiles for cardiovascular disease.
| ClinVar | |
|---|---|
| Risk | rs2073658(A;A) |
| Alt | rs2073658(A;A) |
| Reference | rs2073658(G;G) |
| Significance | Other |
| Disease | Hyperlipidemia |
| Variation | info |
| Gene | TSTD1 USF1 |
| CLNDBN | Hyperlipidemia, familial combined, susceptibility to |
| Reversed | 1 |
| HGVS | NC_000001.10:g.161010762C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013089.3, |
