HMBS, hydroxymethylbilane synthase, 3145

N. diseases: 140; N. variants: 66
Disease: Acute intermittent porphyria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204115
rs118204115
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
CUI: C0162565
Disease:
Acute intermittent porphyria 		A 0.700 CausalMutation CLINVAR