Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA ×
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