rs866082104, ABCB7

N. diseases: 3
Disease: Miller Dieker syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Miller Dieker syndrome
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