Gene: HMBS ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204109
rs118204109
HMBS
T 0.800 CausalMutation CLINVAR Acute intermittent porphyria in Argentina: an update. 26075277

2015
dbSNP: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs118204095
rs118204095
HMBS
0.810 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs118204096
rs118204096
HMBS
0.800 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs118204098
rs118204098
HMBS
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
HMBS
0.800 GeneticVariation UNIPROT A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs1205219549
rs1205219549
HMBS
0.710 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 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 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 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 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 A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 25870942

2015
dbSNP: rs118204094
rs118204094
HMBS
0.830 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs118204095
rs118204095
HMBS
0.810 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs536814318
rs536814318
HMBS
0.810 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs118204096
rs118204096
HMBS
0.800 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs118204098
rs118204098
HMBS
0.800 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs118204099
rs118204099
HMBS
0.800 GeneticVariation UNIPROT Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

2015
dbSNP: rs1205219549
rs1205219549
HMBS
0.710 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 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: 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 Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 25703257

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

2015