Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72554634
rs72554634
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.810 GeneticVariation UNIPROT X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. 22398176 2012
dbSNP: rs72554634
rs72554634
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.810 GeneticVariation UNIPROT X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. 11843825 2001
dbSNP: rs72554634
rs72554634
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.810 GeneticVariation UNIPROT Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. 11050011 2000
dbSNP: rs72554634
rs72554634
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.810 GeneticVariation BEFREE An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. 10196363 1999
dbSNP: rs72554634
rs72554634
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.810 GeneticVariation UNIPROT An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. 10196363 1999
dbSNP: rs72554634
rs72554634
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		C 0.810 CausalMutation CLINVAR An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. 10196363 1999
dbSNP: rs515726147
rs515726147
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		A 0.800 CausalMutation CLINVAR X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. 22398176 2012
dbSNP: rs515726147
rs515726147
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.800 GeneticVariation UNIPROT X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. 22398176 2012
dbSNP: rs515726147
rs515726147
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.800 GeneticVariation UNIPROT X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. 11843825 2001
dbSNP: rs515726147
rs515726147
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.800 GeneticVariation UNIPROT Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. 11050011 2000
dbSNP: rs515726147
rs515726147
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.800 GeneticVariation UNIPROT Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). 10196363 1999
dbSNP: rs80356713
rs80356713
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.800 GeneticVariation UNIPROT
dbSNP: rs80356713
rs80356713
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		G 0.800 CausalMutation CLINVAR
dbSNP: rs80356714
rs80356714
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs80356714
rs80356714
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057518042
rs1057518042
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C1845028
Disease:
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs866082104
rs866082104
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0265219
Disease:
Miller Dieker syndrome 		0.010 GeneticVariation BEFREE Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts. 27604819 2017
dbSNP: rs866082104
rs866082104
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.010 GeneticVariation BEFREE Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts. 27604819 2017
dbSNP: rs866082104
rs866082104
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0002871
Disease:
Anemia 		0.010 GeneticVariation BEFREE Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts. 27604819 2017
dbSNP: rs797044558
rs797044558
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0266470
Disease:
Cerebellar Hypoplasia 		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
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0002896
Disease:
Sideroblastic anemia 		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: rs80356713
rs80356713
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0007758
Disease:
Cerebellar Ataxia 		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: rs80356713
rs80356713
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
CUI: C0002896
Disease:
Sideroblastic anemia 		0.010 GeneticVariation BEFREE X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. 11843825 2001