AHSG, alpha 2-HS glycoprotein, 197

N. diseases: 204; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2518134
rs2518134
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs35094235
rs35094235
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs35457250
rs35457250
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs201849460
rs201849460
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C1859878
Disease:
Alopecia-Mental Retardation Syndrome 1
0.700 GeneticVariation UNIPROT Association of AHSG with alopecia and mental retardation (APMR) syndrome. 28054173 2017
dbSNP: rs2070634
rs2070634
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C1833683
Disease:
NEPHROLITHIASIS, CALCIUM OXALATE
G 0.700 GeneticVariation CLINVAR A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease. 24886237 2014
dbSNP: rs2070635
rs2070635
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C1833683
Disease:
NEPHROLITHIASIS, CALCIUM OXALATE
G 0.700 GeneticVariation CLINVAR A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease. 24886237 2014
dbSNP: rs4918
rs4918
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0011849
Disease:
Diabetes Mellitus
0.020 GeneticVariation BEFREE An association between BMI and rs4918 polymorphism was observed among patients without diabetes (CC/CG/GG genotypes: p=0.003, G vs. non-G allele: p=0.008) but not in diabetics. 27487851 2016
dbSNP: rs4918
rs4918
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE CONCLUSIONS The rs4918 minor variant is associated with lower TNFα and adiponectin, higher leptin levels in healthy persons, and more favorable anthropomorphic parameters of obesity in cohort 2. 27487851 2016
dbSNP: rs4917
rs4917
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0027051
Disease:
Myocardial Infarction
0.020 GeneticVariation BEFREE Eighty-one healthy persons (cohort 1) and 157 patients with previous myocardial infarction (cohort 2) were included in this cross-sectional study. rs4917 Polymorphism was determined by the allele-specific KASP by design genotyping assays. 25695715 2015
dbSNP: rs4917
rs4917
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE Our data suggest that the T nucleotide in rs4917 is associated with more favorable lipid status among healthy persons (i.e., lower low-density lipoprotein cholesterol) and anthropologic parameters of obesity in cohort 2. 25695715 2015
dbSNP: rs1071592
rs1071592
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE We genotyped 321 subjects at increased risk for type 2 diabetes for five single nucleotide polymorphisms (SNP) rs2248690, rs4831, rs2070635, rs4917, and rs1071592. 19358088 2009
dbSNP: rs4917
rs4917
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0027051
Disease:
Myocardial Infarction
0.020 GeneticVariation BEFREE Furthermore, the rs4917 C-allele showed a significant association with MI (adjusted hazard rate ratio [RR] 1.34, 95% CI 1.05 to 1.70, P=0.02). 20031641 2009
dbSNP: rs1071592
rs1071592
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE The major allele of a synonymous coding SNP in</span> exon 7 (rs1071592) presented significant evidence of association with type 2 diabetes (P = 0.008, odds ratio 1.27 [95% CI 1.06-1.52]). 16046317 2005
dbSNP: rs4917
rs4917
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE We genotyped 356 overweight or obese (BMI: 37.2 [25.0-66.5] kg/m(2)) and 148 lean (BMI: 23.7 [23.4-24.9] kg/m(2)) otherwise healthy Swedish men for three non-synonymous single-nucleotide polymorphisms (SNPs) within exon 6 (rs4917) and exon 7 (rs4918 and Arg299Cys) and one SNP in intron 1 (rs2593813) of the AHSG gene. 15806395 2005
dbSNP: rs4918
rs4918
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE We genotyped 356 overweight or obese (BMI: 37.2 [25.0-66.5] kg/m(2)) and 148 lean (BMI: 23.7 [23.4-24.9] kg/m(2)) otherwise healthy Swedish men for three non-synonymous single-nucleotide polymorphisms (SNPs) within exon 6 (rs4917) and exon 7 (rs4918 and Arg299Cys) and one SNP in intron 1 (rs2593813) of the AHSG gene. 15806395 2005
dbSNP: rs4918
rs4918
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0011849
Disease:
Diabetes Mellitus
0.020 GeneticVariation BEFREE In a cohort of 258 (161 males) ESRD patients starting renal replacement therapy [glomerular filtration rate (GFR) 6.8 +/- 0.2 mL/min] aged 52 +/- 1 years the following parameters were studied: presence of malnutrition (subjective global assessment), comorbidity [diabetes mellitus and clinical manifest cardiovascular disease (CVD)], carotid plaques (N= 101), hs-CRP, fetuin-A, S-albumin, interleukin (IL)-6, and single nucleotide polymorphisms (SNPs) in the AHSG gene (N= 215) at amino acid positions Thr248Met (C-->T), Thr256Ser (C-->G), Asp276Asn (G-->A), and Arg317Cys (C-->T). 15882283 2005
dbSNP: rs534828104
rs534828104
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE We further identify a functional low-frequency human FBXW7 coding variant (p.Ala204Thr) in the Chinese population, which is associated with elevated blood glucose and T2DM risk. 29475832 2018
dbSNP: rs534828104
rs534828104
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0020456
Disease:
Hyperglycemia
0.010 GeneticVariation BEFREE We further identify a functional low-frequency human FBXW7 coding variant (p.Ala204Thr) in the Chinese population, which is associated with elevated blood glucose and T2DM risk. 29475832 2018
dbSNP: rs4917
rs4917
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C1561826
Disease:
Overweight and obesity
0.010 GeneticVariation BEFREE rs4917 T allele carriers had higher TG.This relationship was exaggerated in individuals with overweight and obesity. 28858873 2017
dbSNP: rs4918
rs4918
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE We investigated the association between variants of rs4918 and parameters of obesity, lipid status, tumor necrosis factor-α (TNFα), adipokines (adiponectin, resistin, leptin), and insulin resistance in healthy persons and in patients with previous myocardial infarction. 27487851 2016
dbSNP: rs4918
rs4918
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE An association between BMI and rs4918 polymorphism was observed among patients without diabetes (CC/CG/GG genotypes: p=0.003, G vs. non-G allele: p=0.008) but not in diabetics. 27487851 2016
dbSNP: rs2248690
rs2248690
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE Using both genotypes as an instrumental variable for measured fetuin-A, the HRs for one standard deviation increase in genetically determined fetuin-A levels on CHD risk were 0.84 (95% CI: 0.70-1.00) for rs2248690 and 0.97 (95% CI: 0.82-1.14) for rs4917, respectively. 26343871 2015
dbSNP: rs4917
rs4917
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE Using both genotypes as an instrumental variable for measured fetuin-A, the HRs for one standard deviation increase in genetically determined fetuin-A levels on CHD risk were 0.84 (95% CI: 0.70-1.00) for rs2248690 and 0.97 (95% CI: 0.82-1.14) for rs4917, respectively. 26343871 2015
dbSNP: rs761660984
rs761660984
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE Genotype distributions of fetuin-A 742 (C/G, P=0.004) and 766 (C/T, P=0.017) were statistically different in the older patients with MI (MI ≥ 40 years old), as compared with the healthy controls; however, there were no significant differences between the younger patients with MI and the controls, with regards to fetuin-A 742 C/T (P=0.519) and 766 C/G (P=0.653) gene polymorphisms. 25815703 2015
dbSNP: rs4918
rs4918
Entrez Id: 197
Gene Symbol: AHSG
AHSG
CUI: C0007785
Disease:
Cerebral Infarction
0.010 GeneticVariation BEFREE Frequencies of the GG genotype and the G allele in AHSG (rs4918) were significantly higher in patients with ischemic stroke or atherosclerotic cerebral infarction than those in the control group (P < 0.05). 23907641 2013