| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Hypercholesterolemia, Familial
|
0.700 | GeneticVariation | CLINVAR | Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. | 16542394 | 2006 | |||||
Hypercholesterolemia, Familial
|
0.700 | GeneticVariation | CLINVAR | Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. | 15199436 | 2004 | |||||
Hypercholesterolemia, Familial
|
0.700 | GeneticVariation | CLINVAR | The molecular basis of familial hypercholesterolemia in The Netherlands. | 11810272 | 2001 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | The molecular basis of familial hypercholesterolemia in The Netherlands. | 11810272 | 2001 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country. | 10657581 | 2000 | |||||
Hypercholesterolemia, Familial
|
0.700 | CausalMutation | CLINVAR | Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. | 11196104 | 2000 | |||||
Hypercholesterolemia, Familial
|
0.700 | GeneticVariation | CLINVAR | Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. | 11196104 | 2000 | |||||
Hypercholesterolemia, Familial
|
0.700 | GeneticVariation | CLINVAR | Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country. | 10657581 | 2000 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia. | 11196104 | 2000 | |||||
Hypercholesterolemia, Familial
|
0.700 | CausalMutation | CLINVAR | Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. | 1301956 | 1992 | |||||
Familial hypercholesterolemia - homozygous
|
0.700 | CausalMutation | CLINVAR | Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. | 1301956 | 1992 | |||||
Melanocortin 4 Receptor Deficiency
|
0.700 | GeneticVariation | CLINVAR | Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. | 1301956 | 1992 | |||||
Hypercholesterolemia result
|
0.700 | GeneticVariation | CLINVAR | Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. | 1301956 | 1992 | |||||
Hypercholesterolemia result
|
0.700 | GeneticVariation | CLINVAR | Racial differences in the frequencies of scleroderma-related autoantibodies. | 1734910 | 1992 | |||||
Hypercholesterolemia, Familial
|
0.700 | GeneticVariation | CLINVAR | Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. | 1301956 | 1992 | |||||
Melanocortin 4 Receptor Deficiency
|
0.700 | GeneticVariation | CLINVAR | Racial differences in the frequencies of scleroderma-related autoantibodies. | 1734910 | 1992 | |||||
Arcus Senilis
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Low density lipoprotein increased
|
0.700 | CausalMutation | CLINVAR | ||||||||
Ischemic stroke
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Eyelid Xanthoma
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Xanthoma tendinosum
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Hypercholesterolemia result
|
0.700 | CausalMutation | CLINVAR |