Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria. 23815679

2013

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. 19292878

2009

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 14669009

2004

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs. 15669678

2004

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W. 14757946

2004

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria. 11857754

2002

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M). 11013452

2000

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria. 10657149

1999

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations. 10453740

1999

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP). 10602775

1999

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria. 9463797

1998

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families. 9225970

1997

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. 7757070

1995

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria. 8825929

1995

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT "Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes ""variant acute intermittent porphyria"" with normal expression of the erythroid-specific enzyme." 7962538

1994

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria. 8262523

1993

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT CRIM-positive mutations of acute intermittent porphyria in Finland. 1301948

1992

dbSNP: rs118204099
rs118204099
0.800 GeneticVariation UNIPROT Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease. 1714233

1991

dbSNP: rs118204099
rs118204099
G 0.800 CausalMutation CLINVAR