ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Disease: Hypoalphalipoproteinemia, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		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: rs145183203
rs145183203
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		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: rs28933692
rs28933692
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		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: rs760768125
rs760768125
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		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: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670 2012
dbSNP: rs28933692
rs28933692
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670 2012
dbSNP: rs760507032
rs760507032
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		C 0.700 CausalMutation CLINVAR Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family. 22923419 2012
dbSNP: rs760507032
rs760507032
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		C 0.700 CausalMutation CLINVAR Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency. 16343503 2006
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. 15722566 2005
dbSNP: rs145183203
rs145183203
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. 15722566 2005
dbSNP: rs28933692
rs28933692
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. 15722566 2005
dbSNP: rs760507032
rs760507032
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		C 0.700 CausalMutation CLINVAR Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. 16429166 2005
dbSNP: rs760768125
rs760768125
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. 15722566 2005
dbSNP: rs760507032
rs760507032
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		C 0.700 CausalMutation CLINVAR Multiple rare alleles contribute to low plasma levels of HDL cholesterol. 15297675 2004
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Novel ABCA1 compound variant associated with HDL cholesterol deficiency. 12009425 2002
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. 12204794 2002
dbSNP: rs145183203
rs145183203
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Novel ABCA1 compound variant associated with HDL cholesterol deficiency. 12009425 2002
dbSNP: rs145183203
rs145183203
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. 12204794 2002
dbSNP: rs28933692
rs28933692
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Novel ABCA1 compound variant associated with HDL cholesterol deficiency. 12009425 2002
dbSNP: rs28933692
rs28933692
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. 12204794 2002
dbSNP: rs760768125
rs760768125
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. 12204794 2002
dbSNP: rs760768125
rs760768125
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Novel ABCA1 compound variant associated with HDL cholesterol deficiency. 12009425 2002
dbSNP: rs760507032
rs760507032
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		C 0.700 CausalMutation CLINVAR Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. 11238261 2001
dbSNP: rs137854499
rs137854499
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. 11086027 2000
dbSNP: rs145183203
rs145183203
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1704429
Disease:
Hypoalphalipoproteinemia, Familial 		0.700 GeneticVariation UNIPROT Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. 11086027 2000