Gene: ABCB7 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72554634
rs72554634
ABCB7
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
ABCB7
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: rs80356713
rs80356713
ABCB7
G 0.800 CausalMutation CLINVAR

dbSNP: rs80356714
rs80356714
ABCB7
T 0.800 CausalMutation CLINVAR

dbSNP: rs1057518042
rs1057518042
ABCB7
G 0.700 GeneticVariation CLINVAR