Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204100
rs118204100
0.720 GeneticVariation BEFREE The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study. 11202057

2000

dbSNP: rs118204100
rs118204100
0.720 GeneticVariation BEFREE Most AIP mutations were private; however, certain mutations were frequently found in Dutch (R116W) and Swedish (W198X) AIP families. 7866402

1994

dbSNP: rs118204100
rs118204100
A 0.720 CausalMutation CLINVAR