rs4917
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;C) |
| Make rs4917(C;C) |
| Make rs4917(C;T) |
| Make rs4917(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 186619924 |
| Gene | AHSG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4917 |
| dbSNP (classic) | rs4917 |
| ClinGen | rs4917 |
| ebi | rs4917 |
| HLI | rs4917 |
| Exac | rs4917 |
| Gnomad | rs4917 |
| Varsome | rs4917 |
| LitVar | rs4917 |
| Map | rs4917 |
| PheGenI | rs4917 |
| Biobank | rs4917 |
| 1000 genomes | rs4917 |
| hgdp | rs4917 |
| ensembl | rs4917 |
| geneview | rs4917 |
| scholar | rs4917 |
| rs4917 | |
| pharmgkb | rs4917 |
| gwascentral | rs4917 |
| openSNP | rs4917 |
| 23andMe | rs4917 |
| SNPshot | rs4917 |
| SNPdbe | rs4917 |
| MSV3d | rs4917 |
| GWAS Ctlg | rs4917 |
| GMAF | 0.2943 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs4917 is thought to regulate body fat levels and insulin sensitivity. see obesity
link1 the MET/MET genotype has been previously linked with reduced plasma lipid levels and lower body fat concentrations.
link2 Homozygosity for the rs2593813:G-rs4917:Met-rs4918:Ser haplotype conferred an increased risk for leanness (odds ratio=1.90, P=0.027).
[PMID 19358088] AHSG Gene Variation is not Associated with Regional Body Fat Distribution - A Magnetic Resonance Study.
[PMID 20031641] Association of AHSG Gene Polymorphisms With Fetuin-A Plasma Levels and Cardiovascular Diseases in the EPIC-Potsdam Study
[PMID 21904596
] Genetic Variation of the Human ?-2-Heremans-Schmid Glycoprotein (AHSG) Gene Associated with the Risk of SARS-CoV Infection
| ClinVar | |
|---|---|
| Risk | rs4917(C;C) |
| Alt | rs4917(C;C) |
| Reference | rs4917(T;T) |
| Significance | Other |
| Disease | Leanness |
| Variation | info |
| Gene | AHSG |
| CLNDBN | Leanness, susceptibility to |
| Reversed | 0 |
| HGVS | NC_000003.11:g.186337713T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017418.2, |
[PMID 15806395] AHSG gene variant is associated with leanness among Swedish men.
[PMID 16024912] Polymorphism of the AHSG gene is associated with increased adipocyte beta2-adrenoceptor function.
[PMID 18316360] AHSG tag single nucleotide polymorphisms associate with type 2 diabetes and dyslipidemia: studies of metabolic traits in 7,683 white Danish subjects.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 22024217] Are AHSG polymorphisms directly associated with coronary atherosclerosis?
[PMID 22101880] An AHSG gene variant modulates basal metabolic rate and body composition development after a short-time lifestyle intervention.
[PMID 24265586] Lack of Association Between Variants within the AHSG , HCRT and NPY2R Genes and Anthropometrical Parameters in Czech Post-Monica Study
[PMID 23801724] Genetically elevated fetuin-A levels, fasting glucose levels, and risk of type 2 diabetes: the cardiovascular health study.
[PMID 26549924] Allelic Imbalance of mRNA Associated with α2-HS Glycoprotein (Fetuin-A) Polymorphism
[PMID 28858873] Circulating Triglycerides and the Association of Triglycerides with Dietary Intake Are Altered by Alpha-2-Heremans-Schmid Glycoprotein Polymorphisms.
[PMID 32002794] Association of AHSG gene polymorphisms with serum Fetuin-A levels in individuals with cardiovascular calcification in west of Iran.
