| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. | 3142462 | 1988 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. | 3142462 | 1988 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. | 2123470 | 1990 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. | 2123470 | 1990 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. | 1502149 | 1992 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. | 1502149 | 1992 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. | 8208902 | 1994 | |||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | Familial nephropathic systemic amyloidosis caused by apolipoprotein AI variant Arg26. | 8208902 | 1994 | |||||||
|
|
|
0.010 | GeneticVariation | BEFREE | Delayed postprandial retinyl palmitate and squalene removal in a patient heterozygous for apolipoprotein A-IFIN mutation (Leu 159-->Arg) and low HDL cholesterol level without coronary artery disease. | 9125314 | 1996 | |||||||
|
|
|
0.010 | GeneticVariation | BEFREE | Delayed postprandial retinyl palmitate and squalene removal in a patient heterozygous for apolipoprotein A-IFIN mutation (Leu 159-->Arg) and low HDL cholesterol level without coronary artery disease. | 9125314 | 1996 |