ALAS1, 5'-aminolevulinate synthase 1, 211

N. diseases: 27; N. variants: 3
Disease: Sideroblastic anemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200361165
rs200361165
Entrez Id: 211
Gene Symbol: ALAS1
ALAS1
CUI: C0002896
Disease:
Sideroblastic anemia 		0.010 GeneticVariation BEFREE These findings suggest that A1754G mutation was inherited in this family in a manner consistent with X-linked inheritance, and is responsible for sideroblastic anaemia in the patient. 10444183 1999
dbSNP: rs1460260991
rs1460260991
Entrez Id: 211
Gene Symbol: ALAS1
ALAS1
CUI: C0002896
Disease:
Sideroblastic anemia 		0.010 GeneticVariation BEFREE Previously, the mutation G561A has been shown to be responsible for sideroblastic anaemia in females and thought to be lethal in males (1). 9688293 1998