ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9282541
rs9282541
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.040 GeneticVariation BEFREE The aim of this study was to explore whether interactions between FTO rs9939609 and ABCA1 rs9282541 affect BMI and waist circumference (WC), and could explain previously reported population differences in FTO-obesity and FTO-BMI associations in the Mexican and European populations. 28464932 2017
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.040 GeneticVariation BEFREE The genotypic frequency of rs2275542 also differed between the control group and case group (p < 0.05); (2) rs2515602, rs2230806, and rs4149313 polymorphisms were significantly related to risk of overweight/obese; (3) a significant linkage disequilibrium (LD) was observed between the ABCA1 gene rs2275542 with rs3890182 and rs2515602 with rs4149313. 26891315 2016
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.040 GeneticVariation BEFREE (1) The genotypic and allelic frequencies of rs2515602, rs2230806 and rs4149313 were different between normal HDL-C and low HDL-C subjects, the genotypic frequency of rs2275542 was also different between normal HDL-C and low HDL-C subjects (p < 0.05); (2) the level of HDL-C (rs2515602 and rs2275542) in normal HDL-C subjects were different among the genotypes (p < 0.05); the levels of TC, LDL-C (rs2515602, rs4149313); TG (rs2515602, rs1800976, rs4149313) in low HDL-C patients were different among the genotypes (p < 0.05); (3) interactions between the rs3890182, rs2275542, rs180096, and rs4149313 polymorphisms in ABCA1 gene and obesity may be associated with low HDL-C disease; (4) the C-C-C-A-A-G, T-C-C-A-A-A, T-C-C-A-A-G, C-C-C-A-A-A, C-T-G-G-A-A, and T-T-C-G-A-A haplotypes were significant between the subjects with normal HDL-C and low HDL-C level (p < 0.05). 26828509 2016
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.040 GeneticVariation BEFREE The study results suggest that R219K and I883M SNPs of the ABCA1 gene may play a role in susceptibility to obesity in our Egyptian population; the former increases susceptibility and phenotype severity, and the latter is protective. 26243156 2015
dbSNP: rs9282541
rs9282541
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.040 GeneticVariation BEFREE Novel association of the R230C variant of the ABCA1 gene with high triglyceride levels and low high-density lipoprotein cholesterol levels in Mexican school-age children with high prevalence of obesity. 26256050 2015
dbSNP: rs9282541
rs9282541
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.040 GeneticVariation BEFREE The ATP-binding cassette transporter A1 (ABCA1) R230C variant is associated with low HDL cholesterol levels, obesity, and the metabolic syndrome in Mexican-Mestizos. 18003760 2008
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.040 GeneticVariation BEFREE Although the lower level of HDL in overweight/obese men carrying R219K in comparison to the control suggests the possible involvement of this gene with obesity, further investigations are needed to prove the influence of ABCA1 gene polymorphism on HDL level and to determine whether it could be a genetic determinant of obesity. 17923263 2007
dbSNP: rs9282541
rs9282541
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.040 GeneticVariation BEFREE The ATP-binding cassette transporter A1 R230C variant affects HDL cholesterol levels and BMI in the Mexican population: association with obesity and obesity-related comorbidities. 17287470 2007
dbSNP: rs1800976
rs1800976
Entrez Id: 19;105376196
Gene Symbol: ABCA1;LOC105376196
ABCA1;LOC105376196
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE (4) the C-C-C-A-G-G, T-C-G-A-G-G, and T-T-G-G-G-A haplotypes were significant in normal weight and overweight/obese subjects (p < 0.05); (5) the levels of HDL-C (rs2515602, rs2275542, rs4149313) in normal weight subjects were different among the genotypes (p < 0.05); the levels of TC, LDL-C and TG (rs1800976) in overweight/obese subjects were different among the genotypes (p < 0.05). 26891315 2016
dbSNP: rs1800976
rs1800976
Entrez Id: 19;105376196
Gene Symbol: ABCA1;LOC105376196
ABCA1;LOC105376196
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE (1) The genotypic and allelic frequencies of rs2515602, rs2230806 and rs4149313 were different between normal HDL-C and low HDL-C subjects, the genotypic frequency of rs2275542 was also different between normal HDL-C and low HDL-C subjects (p < 0.05); (2) the level of HDL-C (rs2515602 and rs2275542) in normal HDL-C subjects were different among the genotypes (p < 0.05); the levels of TC, LDL-C (rs2515602, rs4149313); TG (rs2515602, rs1800976, rs4149313) in low HDL-C patients were different among the genotypes (p < 0.05); (3) interactions between the rs3890182, rs2275542, rs180096, and rs4149313 polymorphisms in ABCA1 gene and obesity may be associated with low HDL-C disease; (4) the C-C-C-A-A-G, T-C-C-A-A-A, T-C-C-A-A-G, C-C-C-A-A-A, C-T-G-G-A-A, and T-T-C-G-A-A haplotypes were significant between the subjects with normal HDL-C and low HDL-C level (p < 0.05). 26828509 2016
dbSNP: rs2275542
rs2275542
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE (1) The genotypic and allelic frequencies of rs2515602, rs2230806 and rs4149313 were different between normal HDL-C and low HDL-C subjects, the genotypic frequency of rs2275542 was also different between normal HDL-C and low HDL-C subjects (p < 0.05); (2) the level of HDL-C (rs2515602 and rs2275542) in normal HDL-C subjects were different among the genotypes (p < 0.05); the levels of TC, LDL-C (rs2515602, rs4149313); TG (rs2515602, rs1800976, rs4149313) in low HDL-C patients were different among the genotypes (p < 0.05); (3) interactions between the rs3890182, rs2275542, rs180096, and rs4149313 polymorphisms in ABCA1 gene and obesity may be associated with low HDL-C disease; (4) the C-C-C-A-A-G, T-C-C-A-A-A, T-C-C-A-A-G, C-C-C-A-A-A, C-T-G-G-A-A, and T-T-C-G-A-A haplotypes were significant between the subjects with normal HDL-C and low HDL-C level (p < 0.05). 26828509 2016
dbSNP: rs2275542
rs2275542
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE The rs2515602, rs4149313, and rs2275542 polymorphisms were associated with overweight/obese conditions among Uyghurs. 26891315 2016
dbSNP: rs2515602
rs2515602
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE (4) the C-C-C-A-G-G, T-C-G-A-G-G, and T-T-G-G-G-A haplotypes were significant in normal weight and overweight/obese subjects (p < 0.05); (5) the levels of HDL-C (rs2515602, rs2275542, rs4149313) in normal weight subjects were different among the genotypes (p < 0.05); the levels of TC, LDL-C and TG (rs1800976) in overweight/obese subjects were different among the genotypes (p < 0.05). 26891315 2016
dbSNP: rs2515602
rs2515602
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE (1) The genotypic and allelic frequencies of rs2515602, rs2230806 and rs4149313 were different between normal HDL-C and low HDL-C subjects, the genotypic frequency of rs2275542 was also different between normal HDL-C and low HDL-C subjects (p < 0.05); (2) the level of HDL-C (rs2515602 and rs2275542) in normal HDL-C subjects were different among the genotypes (p < 0.05); the levels of TC, LDL-C (rs2515602, rs4149313); TG (rs2515602, rs1800976, rs4149313) in low HDL-C patients were different among the genotypes (p < 0.05); (3) interactions between the rs3890182, rs2275542, rs180096, and rs4149313 polymorphisms in ABCA1 gene and obesity may be associated with low HDL-C disease; (4) the C-C-C-A-A-G, T-C-C-A-A-A, T-C-C-A-A-G, C-C-C-A-A-A, C-T-G-G-A-A, and T-T-C-G-A-A haplotypes were significant between the subjects with normal HDL-C and low HDL-C level (p < 0.05). 26828509 2016
dbSNP: rs4149313
rs4149313
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE (4) the C-C-C-A-G-G, T-C-G-A-G-G, and T-T-G-G-G-A haplotypes were significant in normal weight and overweight/obese subjects (p < 0.05); (5) the levels of HDL-C (rs2515602, rs2275542, rs4149313) in normal weight subjects were different among the genotypes (p < 0.05); the levels of TC, LDL-C and TG (rs1800976) in overweight/obese subjects were different among the genotypes (p < 0.05). 26891315 2016
dbSNP: rs4149313
rs4149313
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE (1) The genotypic and allelic frequencies of rs2515602, rs2230806 and rs4149313 were different between normal HDL-C and low HDL-C subjects, the genotypic frequency of rs2275542 was also different between normal HDL-C and low HDL-C subjects (p < 0.05); (2) the level of HDL-C (rs2515602 and rs2275542) in normal HDL-C subjects were different among the genotypes (p < 0.05); the levels of TC, LDL-C (rs2515602, rs4149313); TG (rs2515602, rs1800976, rs4149313) in low HDL-C patients were different among the genotypes (p < 0.05); (3) interactions between the rs3890182, rs2275542, rs180096, and rs4149313 polymorphisms in ABCA1 gene and obesity may be associated with low HDL-C disease; (4) the C-C-C-A-A-G, T-C-C-A-A-A, T-C-C-A-A-G, C-C-C-A-A-A, C-T-G-G-A-A, and T-T-C-G-A-A haplotypes were significant between the subjects with normal HDL-C and low HDL-C level (p < 0.05). 26828509 2016
dbSNP: rs3890182
rs3890182
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE The genotypic frequency of rs2275542 also differed between the control group and case group (p < 0.05); (2) rs2515602, rs2230806, and rs4149313 polymorphisms were significantly related to risk of overweight/obese; (3) a significant linkage disequilibrium (LD) was observed between the ABCA1 gene rs2275542 with rs3890182 and rs2515602 with rs4149313. 26891315 2016
dbSNP: rs2066714
rs2066714
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE The study results suggest that R219K and I883M SNPs of the ABCA1 gene may play a role in susceptibility to obesity in our Egyptian population; the former increases susceptibility and phenotype severity, and the latter is protective. 26243156 2015