SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Disease: Anemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs559063155
rs559063155
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
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