rs974712040, 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 two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M). 11013452 2000
Acute intermittent porphyria
CUI: C0162565
Disease: Acute intermittent porphyria
0.710 GeneticVariation UNIPROT