rs118204107, HMBS

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acute intermittent porphyria
CUI: C0162565
Disease: Acute intermittent porphyria
0.710 GeneticVariation BEFREE Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. 10494093 1999
Acute intermittent porphyria
CUI: C0162565
Disease: Acute intermittent porphyria
0.710 CausalMutation CLINVAR