Gene: ALAS2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852310
rs137852310
ALAS2
0.810 GeneticVariation UNIPROT

dbSNP: rs137852299
rs137852299
ALAS2
0.800 GeneticVariation UNIPROT

dbSNP: rs137852300
rs137852300
ALAS2
0.800 GeneticVariation UNIPROT

dbSNP: rs137852301
rs137852301
ALAS2
0.800 GeneticVariation UNIPROT

dbSNP: rs137852305
rs137852305
ALAS2
0.800 GeneticVariation UNIPROT

dbSNP: rs137852308
rs137852308
ALAS2
0.800 GeneticVariation UNIPROT

dbSNP: rs137852311
rs137852311
ALAS2
0.800 GeneticVariation UNIPROT

dbSNP: rs185504937
rs185504937
ALAS2
0.700 GeneticVariation UNIPROT New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. 21252495

2011
dbSNP: rs185504937
rs185504937
ALAS2
0.700 GeneticVariation UNIPROT Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. 21309041

2011
dbSNP: rs201062903
rs201062903
ALAS2
0.700 GeneticVariation UNIPROT Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. 21309041

2011
dbSNP: rs201062903
rs201062903
ALAS2
0.700 GeneticVariation UNIPROT New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. 21252495

2011
dbSNP: rs863223904
rs863223904
ALAS2
0.700 GeneticVariation UNIPROT Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. 21309041

2011
dbSNP: rs863223904
rs863223904
ALAS2
0.700 GeneticVariation UNIPROT New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. 21252495

2011
dbSNP: rs892041887
rs892041887
ALAS2 ; APEX2
0.700 GeneticVariation UNIPROT Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. 21309041

2011
dbSNP: rs892041887
rs892041887
ALAS2 ; APEX2
0.700 GeneticVariation UNIPROT New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine. 21252495

2011
dbSNP: rs185504937
rs185504937
ALAS2
0.700 GeneticVariation UNIPROT Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. 19731322

2010
dbSNP: rs201062903
rs201062903
ALAS2
0.700 GeneticVariation UNIPROT Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. 19731322

2010
dbSNP: rs863223904
rs863223904
ALAS2
0.700 GeneticVariation UNIPROT Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. 19731322

2010
dbSNP: rs892041887
rs892041887
ALAS2 ; APEX2
0.700 GeneticVariation UNIPROT Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. 19731322

2010
dbSNP: rs185504937
rs185504937
ALAS2
0.700 GeneticVariation UNIPROT Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. 12393718

2002
dbSNP: rs185504937
rs185504937
ALAS2
0.700 GeneticVariation UNIPROT A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. 12031592

2002
dbSNP: rs201062903
rs201062903
ALAS2
0.700 GeneticVariation UNIPROT Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. 12393718

2002
dbSNP: rs201062903
rs201062903
ALAS2
0.700 GeneticVariation UNIPROT A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. 12031592

2002
dbSNP: rs863223904
rs863223904
ALAS2
0.700 GeneticVariation UNIPROT Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. 12393718

2002
dbSNP: rs863223904
rs863223904
ALAS2
0.700 GeneticVariation UNIPROT A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia. 12031592

2002