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: 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: 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: 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: 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