Gene: ABCA1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2853578
rs2853578
ABCA1
0.810 GeneticVariation UNIPROT

dbSNP: rs137854494
rs137854494
ABCA1
0.800 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981

2013
dbSNP: rs137854495
rs137854495
ABCA1
0.800 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981

2013
dbSNP: rs137854497
rs137854497
ABCA1
0.800 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981

2013
dbSNP: rs137854500
rs137854500
ABCA1
0.800 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981

2013
dbSNP: rs137854501
rs137854501
ABCA1
0.800 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981

2013
dbSNP: rs28937313
rs28937313
ABCA1
0.800 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981

2013
dbSNP: rs28937314
rs28937314
ABCA1
0.800 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981

2013
dbSNP: rs137854494
rs137854494
ABCA1
0.800 GeneticVariation UNIPROT Analysis of apoE3-containing particles generated during the incubation of lipid-free apoE3 with stimulated normal cells showed nascent apoE3/cholesterol/phospholipid complexes that exhibited prebeta-electrophoretic mobility with a particle size ranging from 9 to 15 nm, whereas lipid-free apoE3 incubated with ABCA1 mutant (C1477R) cells was unable to form such particles.These results demonstrate that 1). apoE association with lipids reduced its ability to interact with ABCA1; 2). apoE isoforms did not affect apoE binding to ABCA1; 3). apoE-mediated ABCA1-dependent cholesterol efflux was not affected by apoE isoforms in fibroblasts; and 4). the lipid translocase activity of ABCA1 generates apoE-containing high density-sized lipoprotein particles. 14754908

2004
dbSNP: rs137854494
rs137854494
ABCA1
0.800 GeneticVariation UNIPROT Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. 15158913

2004
dbSNP: rs137854494
rs137854494
ABCA1
0.800 GeneticVariation UNIPROT Multiple rare alleles contribute to low plasma levels of HDL cholesterol. 15297675

2004
dbSNP: rs137854494
rs137854494
ABCA1
0.800 GeneticVariation UNIPROT Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 15019541

2004
dbSNP: rs137854494
rs137854494
ABCA1
0.800 GeneticVariation UNIPROT Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. 15520867

2004
dbSNP: rs137854494
rs137854494
ABCA1
0.800 GeneticVariation UNIPROT Screening for functional sequence variations and mutations in ABCA1. 15262183

2004
dbSNP: rs137854495
rs137854495
ABCA1
0.800 GeneticVariation UNIPROT Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. 15520867

2004
dbSNP: rs137854495
rs137854495
ABCA1
0.800 GeneticVariation UNIPROT Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 15019541

2004
dbSNP: rs137854495
rs137854495
ABCA1
0.800 GeneticVariation UNIPROT Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. 15158913

2004
dbSNP: rs137854495
rs137854495
ABCA1
0.800 GeneticVariation UNIPROT Multiple rare alleles contribute to low plasma levels of HDL cholesterol. 15297675

2004
dbSNP: rs137854495
rs137854495
ABCA1
0.800 GeneticVariation UNIPROT Screening for functional sequence variations and mutations in ABCA1. 15262183

2004
dbSNP: rs137854495
rs137854495
ABCA1
0.800 GeneticVariation UNIPROT Molecular interactions between apoE and ABCA1: impact on apoE lipidation. 14754908

2004
dbSNP: rs137854497
rs137854497
ABCA1
0.800 GeneticVariation UNIPROT Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 15019541

2004
dbSNP: rs137854497
rs137854497
ABCA1
0.800 GeneticVariation UNIPROT Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. 15158913

2004
dbSNP: rs137854497
rs137854497
ABCA1
0.800 GeneticVariation UNIPROT Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. 15520867

2004
dbSNP: rs137854497
rs137854497
ABCA1
0.800 GeneticVariation UNIPROT Screening for functional sequence variations and mutations in ABCA1. 15262183

2004
dbSNP: rs137854497
rs137854497
ABCA1
0.800 GeneticVariation UNIPROT Multiple rare alleles contribute to low plasma levels of HDL cholesterol. 15297675

2004