Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs575222284
rs575222284
HMBS
0.730 GeneticVariation BEFREE These results reinforce the hypothesis that the R173W mutation may have a high biochemical and clinical penetrance among AIP patients. 16817012

2006
dbSNP: rs575222284
rs575222284
HMBS
0.730 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: rs575222284
rs575222284
HMBS
0.730 GeneticVariation BEFREE Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect. 9455613

1997
dbSNP: rs575222284
rs575222284
HMBS
0.730 GeneticVariation UNIPROT