Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204109
rs118204109
T 0.800 CausalMutation CLINVAR Acute intermittent porphyria in Argentina: an update. 26075277

2015

dbSNP: rs118204109
rs118204109
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

dbSNP: rs118204109
rs118204109
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

dbSNP: rs118204109
rs118204109
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

dbSNP: rs118204109
rs118204109
0.800 GeneticVariation UNIPROT