Gene: ABCA1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2853578
rs2853578
ABCA1
0.810 GeneticVariation BEFREE Previously, we showed that an ABCA1 Q597R mutant (QR) identified in TD is retained in the endoplasmic reticulum. 18343215

2008
dbSNP: rs137854496
rs137854496
ABCA1
0.720 GeneticVariation BEFREE Depletion of sphingomyelin in stably transfected HEK293 cells expressing the Tangier disease W590S mutant ABCA1 isoform rescued the defect in PS exposure and restored cholesterol efflux to apoAI. 24220029

2013
dbSNP: rs137854496
rs137854496
ABCA1
0.720 GeneticVariation BEFREE The Tangier disease mutation W590S, which resides in the extracellular domain and impairs apoA-I-dependent lipid efflux, greatly decreased NaTC-dependent cholesterol and phospholipid efflux. 19202195

2009
dbSNP: rs141021096
rs141021096
ABCA1
0.710 GeneticVariation BEFREE Finally, apoA-I stimulates apoE secretion normally from macrophages of two unrelated subjects with genetically confirmed Tangier Disease (mutations C733R and c.5220-5222delTCT; and mutations A1046D and c.4629-4630insA), despite severely inhibited cholesterol efflux. 15066991

2004
dbSNP: rs137854498
rs137854498
ABCA1
0.710 GeneticVariation BEFREE We have documented here a clinical variant of TD in a Japanese patient who manifested corneal lipidosis and premature coronary artery disease as well as an almost complete absence of HDL-cholesterol, by identifying a novel homozygous ABCA1 mutation (R1680W). 12111371

2002
dbSNP: rs778885878
rs778885878
ABCA1
0.020 GeneticVariation BEFREE Cholesterol efflux studies showed the efflux from TD fibroblasts and HEK293 cells expressing the mutant p.R1068H protein to be markedly reduced compared to wildtype. 21763656

2011
dbSNP: rs374404992
rs374404992
ABCA1
0.020 GeneticVariation BEFREE Compound heterozygosity for the nonsense mutation R282X and the missense mutation Y1532C in the ABCA1 gene causes Tangier disease. 19765707

2010
dbSNP: rs778885878
rs778885878
ABCA1
0.020 GeneticVariation BEFREE A new mutation (R1068H) within the first ATP-binding domain was identified in homozygous form in the Tangier disease individual and was present in several family members. 16225879

2006
dbSNP: rs374404992
rs374404992
ABCA1
0.020 GeneticVariation BEFREE Two point mutations of ABCA1 gene were found in a patient with Tangier disease (TD): i) G>C in intron 2 (IVS2 +5G>C) and ii) c.844 C>T in exon 9 (R282X). 12576507

2003
dbSNP: rs1225973801
rs1225973801
ABCA1
0.010 GeneticVariation BEFREE Compound heterozygosity for the nonsense mutation R282X and the missense mutation Y1532C in the ABCA1 gene causes Tangier disease. 19765707

2010
dbSNP: rs575627531
rs575627531
ABCA1
0.010 GeneticVariation BEFREE A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. 19723515

2009