Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371769427
rs371769427
U2AF1
0.020 GeneticVariation BEFREE MDS and acute myeloid leukemia patient samples harboring U2AF35(S34F) have a similar increased use of the ATG7 distal CP site, and previous studies have shown that mice with hematopoietic cells lacking Atg7 develop an MDS-like syndrome. 27184077

2016
dbSNP: rs371769427
rs371769427
U2AF1
0.020 GeneticVariation BEFREE These data suggest that the S34F mutation alters U2AF1 function in the context of specific RNA sequences, leading to aberrant alternative splicing of target genes, some of which may be relevant for MDS pathogenesis. 25311244

2015
dbSNP: rs559063155
rs559063155
SF3B1
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
dbSNP: rs866082104
rs866082104
ABCB7
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
dbSNP: rs1464681682
rs1464681682
U2AF1L5 ; LOC102724701 ; LOC102724843
0.010 GeneticVariation BEFREE We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS). 25311244

2015
dbSNP: rs371246226
rs371246226
U2AF1
0.010 GeneticVariation BEFREE We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS). 25311244

2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.010 GeneticVariation BEFREE Recently published studies report a small percentage of patients with RARS-T. Sixty percent of these have JAK2 V617F mutation, which can suggest the coexistence of two pathological conditions (MDS and MPN). 24399021

2013
dbSNP: rs1470755915
rs1470755915
RUNX1T1
0.010 GeneticVariation BEFREE MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6. 20878158

2011
dbSNP: rs3745274
rs3745274
CYP2B6
0.010 GeneticVariation BEFREE MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6. 20878158

2011
dbSNP: rs927698341
rs927698341
RUNX1T1
0.010 GeneticVariation BEFREE MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6. 20878158

2011