Gene: HMBS ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521126
rs1057521126
HMBS
0.700 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs1057521126
rs1057521126
HMBS
0.700 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs1165046276
rs1165046276
HMBS
0.700 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs1165046276
rs1165046276
HMBS
0.700 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs142459647
rs142459647
HMBS
0.700 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs142459647
rs142459647
HMBS
0.700 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs150763621
rs150763621
HMBS
0.700 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs150763621
rs150763621
HMBS
0.700 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs998842815
rs998842815
HMBS
0.700 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs998842815
rs998842815
HMBS
0.700 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs1057521126
rs1057521126
HMBS
0.700 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: rs1165046276
rs1165046276
HMBS
0.700 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: rs142459647
rs142459647
HMBS
0.700 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: rs150763621
rs150763621
HMBS
0.700 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: rs998842815
rs998842815
HMBS
0.700 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: rs1057521126
rs1057521126
HMBS
0.700 GeneticVariation UNIPROT Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. 19292878

2009
dbSNP: rs1165046276
rs1165046276
HMBS
0.700 GeneticVariation UNIPROT Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. 19292878

2009
dbSNP: rs142459647
rs142459647
HMBS
0.700 GeneticVariation UNIPROT Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. 19292878

2009
dbSNP: rs150763621
rs150763621
HMBS
0.700 GeneticVariation UNIPROT Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. 19292878

2009
dbSNP: rs998842815
rs998842815
HMBS
0.700 GeneticVariation UNIPROT Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. 19292878

2009
dbSNP: rs1057521126
rs1057521126
HMBS
0.700 GeneticVariation UNIPROT Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs. 15669678

2004
dbSNP: rs1057521126
rs1057521126
HMBS
0.700 GeneticVariation UNIPROT Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W. 14757946

2004
dbSNP: rs1057521126
rs1057521126
HMBS
0.700 GeneticVariation UNIPROT Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 14669009

2004
dbSNP: rs1165046276
rs1165046276
HMBS
0.700 GeneticVariation UNIPROT Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 14669009

2004
dbSNP: rs1165046276
rs1165046276
HMBS
0.700 GeneticVariation UNIPROT Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W. 14757946

2004