APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1264352930
rs1264352930
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Delayed postprandial retinyl palmitate and squalene removal in a patient heterozygous for apolipoprotein A-IFIN mutation (Leu 159-->Arg) and low HDL cholesterol level without coronary artery disease. 9125314 1996
dbSNP: rs1384889210
rs1384889210
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease. 8840853 1996
dbSNP: rs1384889210
rs1384889210
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease. 8840853 1996
dbSNP: rs1384889210
rs1384889210
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease. 8840853 1996
dbSNP: rs387906571
rs387906571
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0268397
Disease:
Amyloidosis, Primary Cutaneous
0.010 GeneticVariation BEFREE A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. 10198255 1999
dbSNP: rs1264352930
rs1264352930
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0473527
Disease:
Hypoalphalipoproteinemias
0.010 GeneticVariation BEFREE We have devised a combined in vivo, ex vivo, and in vitro approach to elucidate the mechanism(s) responsible for the hypoalphalipoproteinemia in heterozygous carriers of a naturally occurring apolipoprotein A-I (apoA-I) variant (Leu(159) to Arg) known as apoA-I Finland (apoA-I(FIN)). 11292828 2001
dbSNP: rs369066087
rs369066087
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE The ApoA1 T84C polymorphism is an important marker for the HDL-C level and may be a new risk marker for MI in Japanese. 15258834 2004
dbSNP: rs121912717
rs121912717
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE No association was found between the G664A polymorphism and CAD in our population. 16721833 2006
dbSNP: rs777407596
rs777407596
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE For this purpose, we assayed -1.131T>C and c.56C>G polymorphisms for 279 subjects divided into three groups: a control group, a metabolic syndrome group and a cardiovascular disease group. 17635078 2007
dbSNP: rs670
rs670
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The minor 'A' allele of the APOAI rs670 polymorphism was found to be not associated with CAD, contrary to previous reports. 18179799 2008
dbSNP: rs12721026
rs12721026
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE The GC haplotype, which is composed of the G-allele of rs12721026 and the C-allele of rs1729408, was significantly associated with obesity (P = 0.028), with higher glycated hemoglobin (P = 0.006), and fasting glucose (P = 0.0003) compared to the TT haplotype, which includes the wild-type alleles of both polymorphisms. 20480398 2010
dbSNP: rs670
rs670
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0242339
Disease:
Dyslipidemias
0.030 GeneticVariation BEFREE ApoB rs512535 and ApoA1 rs670 major G allele homozygotes had increased MetS risk (OR 1.65 [CI 1.24, 2.20], P = 0.0006; OR 1.42 [CI 1.08, 1.87], P = 0.013), which may be, partly, explained by their increased abdominal obesity and impaired insulin sensitivity (P<0.05) but not dyslipidemia. 21122859 2011
dbSNP: rs670
rs670
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0524620
Disease:
Metabolic Syndrome X
0.020 GeneticVariation BEFREE ApoB rs512535 and ApoA1 rs670 may influence MetS risk. 21122859 2011
dbSNP: rs670
rs670
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE ApoB rs512535 and ApoA1 rs670 major G allele homozygotes had increased MetS risk (OR 1.65 [CI 1.24, 2.20], P = 0.0006; OR 1.42 [CI 1.08, 1.87], P = 0.013), which may be, partly, explained by their increased abdominal obesity and impaired insulin sensitivity (P<0.05) but not dyslipidemia. 21122859 2011
dbSNP: rs2070665
rs2070665
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs5072
rs5072
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C1445957
Disease:
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs5072
rs5072
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs5072
rs5072
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1264352930
rs1264352930
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0004153
Disease:
Atherosclerosis
0.020 GeneticVariation BEFREE In conclusion, large HDL-like particles containing apoE and apoA-I(L159R) contribute rather than protect against atherosclerosis, possibly through defective efflux properties and their potential for aggregation at their site of interaction in the aorta. 21944998 2012
dbSNP: rs1264352930
rs1264352930
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0003850
Disease:
Arteriosclerosis
0.020 GeneticVariation BEFREE In conclusion, large HDL-like particles containing apoE and apoA-I(L159R) contribute rather than protect against atherosclerosis, possibly through defective efflux properties and their potential for aggregation at their site of interaction in the aorta. 21944998 2012
dbSNP: rs777407596
rs777407596
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0020557
Disease:
Hypertriglyceridemia
0.010 GeneticVariation BEFREE Various studies have identified a number of common (APOA5 c.56C>G; p.S19W; rs 3135506 ) and rare variants in the APOA5 gene in individuals with hypertriglyceridemia. 22914599 2012
dbSNP: rs12721025
rs12721025
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
A 0.800 GeneticVariation GWASDB Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis. 23989729 2013
dbSNP: rs12721025
rs12721025
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0700639
Disease:
Pyloric Stenosis, Hypertrophic
A 0.800 GeneticVariation GWASCAT Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis. 23989729 2013
dbSNP: rs670
rs670
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our findings suggest that APOA1 rs670 indicate a post-surgery risk of breast cancer disease progression, and that carriers of this SNP may benefit from more advanced disease monitoring and therapy regimens than the current regular standards. 23829168 2013
dbSNP: rs670
rs670
Entrez Id: 335;104326055
Gene Symbol: APOA1;APOA1-AS
APOA1;APOA1-AS
CUI: C0521158
Disease:
Recurrent tumor
0.010 GeneticVariation BEFREE Moreover, rs670 A/A carrying patients had higher risks in both tumor recurrence (HR=3.12, 95% CI=1.29-7.56, p=0.012) and mortality (HR=4.36, 95% CI=1.52-12.47, p=0.006) than patients with no A alleles after adjustments for associated baseline parameters. 23829168 2013