Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557248142
rs1557248142
ALAS2
T 0.700 CausalMutation CLINVAR

dbSNP: rs541845688
rs541845688
ABCB6
0.010 GeneticVariation BEFREE The mutation resulting in a substitution of a highly conserved glycine to serine in position 682 is apparently a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia. 26242992

2016
dbSNP: rs797044558
rs797044558
ABCB7
0.010 GeneticVariation BEFREE The mutation resulting in a substitution of a highly conserved glycine to serine in position 682 is apparently a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia. 26242992

2016
dbSNP: rs201062903
rs201062903
ALAS2
0.010 GeneticVariation BEFREE Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload. 16446107

2007
dbSNP: rs892041887
rs892041887
ALAS2 ; APEX2
0.010 GeneticVariation BEFREE The third subject had sideroblastic anemia with iron overload, and was hemizygous for both P520L and R560H (c. 1679 G --> A) mutations in ALAS2. 16446107

2007
dbSNP: rs863223904
rs863223904
ALAS2
0.010 GeneticVariation BEFREE Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma. 16540354

2006
dbSNP: rs80356713
rs80356713
ABCB7
0.010 GeneticVariation BEFREE X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. 11843825

2001
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.010 GeneticVariation BEFREE Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations. 10027719

1999
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.010 GeneticVariation BEFREE Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations. 10027719

1999
dbSNP: rs200361165
rs200361165
ALAS1
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
ALAS1
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