Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981

2013
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. 15158913

2004
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Molecular interactions between apoE and ABCA1: impact on apoE lipidation. 14754908

2004
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 15019541

2004
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. 15520867

2004
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Multiple rare alleles contribute to low plasma levels of HDL cholesterol. 15297675

2004
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Screening for functional sequence variations and mutations in ABCA1. 15262183

2004
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease. 14576201

2003
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency. 11785958

2002
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease. 12111381

2002
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T. 12407001

2002
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis. 12111371

2002
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome. 11476961

2001
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. 11476965

2001
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. 11257260

2001
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. 10706591

2000
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Common and rare ABCA1 variants affecting plasma HDL cholesterol. 10938021

2000
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. 11086027

2000
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. 10431236

1999
dbSNP: rs146292819
rs146292819
ABCA1
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.700 GeneticVariation UNIPROT The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. 10431237

1999