Gene: HMBS ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs551209435
rs551209435
HMBS
0.010 GeneticVariation BEFREE Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria. 23815679

2013
dbSNP: rs780020705
rs780020705
HMBS
0.010 GeneticVariation BEFREE In three lines, the phenotype was an autosomal dominant trait, while affected cats with the c.250G>A (p.A84T) mutation were homozygous, a unique recessive form of AIP. 19934113

2010
dbSNP: rs369855221
rs369855221
HMBS
0.010 GeneticVariation BEFREE Moreover, changes in K(m), V(max) and thermostability observed in the recombinant V215M suggest a causal relationship between V215M and AIP. 18406650

2008
dbSNP: rs757988130
rs757988130
HMBS
0.010 GeneticVariation BEFREE Using denaturing-gradient gel electrophoresis (DGGE) and direct sequencing we characterized six different mutations, including four novel, from the seven AIP families: three splicing defects (IVS 5+2 Ins G; IVS 7+1 G to A in two families; IVS 10-1 G to T); a small deletion (1004 Del G); and two missense mutations (R116 W; A270G). 11030413

2000
dbSNP: rs1325031228
rs1325031228
HMBS
0.010 GeneticVariation BEFREE By direct solid-phase sequencing, two mutations causing AIP were identified, an adenine deletion at position 629 in exon 11(629delA), which alters the reading frame and predicts premature truncation of the enzyme protein after amino acid 255, and a nonsense mutation in exon 12 (R225X). 8533808

1995
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 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: rs142459647
rs142459647
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: rs150763621
rs150763621
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: rs998842815
rs998842815
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: 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