Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204101
rs118204101
HMBS
0.720 GeneticVariation BEFREE Mutations R167W and R225G resulted in milder biochemical abnormalities and clinical symptoms indicating a milder form of AIP in these patients. 15643298

2005
dbSNP: rs118204101
rs118204101
HMBS
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: rs118204101
rs118204101
HMBS
T 0.720 CausalMutation CLINVAR