| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.830 | CausalMutation | CLINVAR | ||||||
|
A | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.810 | CausalMutation | CLINVAR | ||||||
|
A | 0.810 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | Molecular analyses of unrelated AIP patients revealed six exonic mutations: an initiating methionine to isoleucine substitution (M1I) in a patient with variant AIP, which precluded translation of the housekeeping, but not the erythroid-specific isozyme; four missense mutations in classical AIP patients, V93F, R116W, R201W, C247F; and a nonsense mutation W283X in a classical AIP patient, which truncated the housekeeping and erythroid-specific isozymes. | 7962538 | 1994 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles. | 8270256 | 1994 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene. | 12372055 | 2002 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Acute intermittent porphyria in Argentina: an update. | 26075277 | 2015 |
|||
|
A | 0.730 | CausalMutation | CLINVAR | ||||||
|
A | 0.720 | CausalMutation | CLINVAR | ||||||
|
T | 0.720 | CausalMutation | CLINVAR | ||||||
|
A | 0.710 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |