rs559063155, SF3B1

N. diseases: 14
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia. 23395771 2013
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia. 23395771 2013
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia. 23395771 2013
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.030 GeneticVariation BEFREE Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation. 28615231 2017
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.030 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
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
0.030 GeneticVariation BEFREE Thus, SF3B1(K700E) expression reflects the phenotype of the mutation in MDS and may be a therapeutic target in MDS. 27622333 2016
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
0.010 GeneticVariation BEFREE In a case-control study, 100 patients with CLL and 105 healthy individuals were investigated for Notch homolog 1, translocation-associated (<i>Drosophila</i>) (NOTCH1) c.7544-7545delCT, recombinant splicing factor 3B subunit 1 (SF3B1) c.2098A>G, mouse double minute 2 homolog (MDM2) 40-bp insertion/deletion and myeloid differentiation primary response 88 (MYD88) L265P mutations by using allele specific-polymerase chain reaction (AS-PCR), a designed AS-PCR, PCR and PCR-restriction fragment length polymorphism methods, respectively. 30930998 2019
Anemia
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
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
0.010 GeneticVariation BEFREE Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation. 28615231 2017
Adult Myelodysplastic Syndrome
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
0.010 GeneticVariation BEFREE Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation. 28615231 2017
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
Childhood Myelodysplastic Syndrome
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
0.010 GeneticVariation BEFREE Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation. 28615231 2017
Anemia, Macrocytic
CUI: C0002886
Disease: Anemia, Macrocytic
0.010 GeneticVariation BEFREE Sf3b1(K700E) mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and long-term hematopoietic stem cell (LT-HSC) expansion. 27622333 2016
Maturation defect
CUI: C0334070
Disease: Maturation defect
0.010 GeneticVariation BEFREE Sf3b1(K700E) mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and long-term hematopoietic stem cell (LT-HSC) expansion. 27622333 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE Additional profiling of hotspot mutations in a panel of special histological subtypes of breast cancer showed that 16% and 6% of papillary and mucinous carcinomas of the breast harboured the SF3B1 K700E mutation. 25424858 2015
Mucinous Adenocarcinoma
CUI: C0007130
Disease: Mucinous Adenocarcinoma
0.010 GeneticVariation BEFREE Additional profiling of hotspot mutations in a panel of special histological subtypes of breast cancer showed that 16% and 6% of papillary and mucinous carcinomas of the breast harboured the SF3B1 K700E mutation. 25424858 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Additional profiling of hotspot mutations in a panel of special histological subtypes of breast cancer showed that 16% and 6% of papillary and mucinous carcinomas of the breast harboured the SF3B1 K700E mutation. 25424858 2015
Leukemia, Myelomonocytic, Chronic
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
0.010 GeneticVariation BEFREE In this study of 226 patients with chronic myelomonocytic leukemia (CMML), mutational frequencies were 40% for SRSF2 (all affecting P95), 6% for SF3B1 (primarily K700E) and 9% for U2AF35 (mostly S34F and Q157P/R). 23335386 2013