rs5742904, APOB

N. diseases: 22
Disease: Hyperlipoproteinemia Type IIb ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperlipoproteinemia Type IIb
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
0.900 GeneticVariation BEFREE The Arg3500Gln mutation in the apolipoprotein B gene, which is responsible for familial defective apolipoprotein B-100 and is present in approximately 1 in 1000 persons in Denmark, causes severe hypercholesterolemia and increases the risk of ischemic heart disease. 9603795 1998
Hyperlipoproteinemia Type IIb
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
0.900 CausalMutation CLINVAR The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. 11115503 2001
Hyperlipoproteinemia Type IIb
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
0.900 GeneticVariation BEFREE The prevalence of FDB Arg3500Gln mutation in hypercholesterolaemic Polish subjects (3.7%) seems to be similar to the frequency reported in other Caucasian hypercholesterolaemic populations. 11781700 2001
Hyperlipoproteinemia Type IIb
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
0.900 GeneticVariation BEFREE Two specific mutations in the APOB gene--R3500Q and R3531C--induce FDB. 9259199 1997