Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
0.010 GeneticVariation BEFREE We found that the rs228593, rs2267437 and rs1805388 functional polymorphisms probably alter the level of expression of the ATM, XRCC6 and LIG4 genes, respectively, being important in the maintenance of genomic instability in MDS. 27497341

2016
dbSNP: rs3835
rs3835
XRCC5
0.010 GeneticVariation BEFREE We found that the A/G heterozygous genotype of the rs3835 polymorphism is associated with decreased chance of developing MDS (p < 0.001). 25312513

2015
dbSNP: rs25489
rs25489
XRCC1
0.010 GeneticVariation BEFREE Our study suggests that XRCC1 (Arg280His) and XPD polymorphisms are associated with risk of MDS and XRCC1 polymorphism strongly associated with advanced MDS subgroup. 26482462

2016
dbSNP: rs1800975
rs1800975
XPA
0.010 GeneticVariation BEFREE The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. 28472728

2017
dbSNP: rs387906717
rs387906717
WAS
0.010 GeneticVariation BEFREE A recently identified WASp(I294T) mutation was shown to render WASp constitutively active in vivo, causing increased filamentous (F)-actin polymerization, high podosome turnover in macrophages, and myelodysplasia. 20354175

2010
dbSNP: rs2228570
rs2228570
VDR
0.010 GeneticVariation BEFREE Moreover, TT carriers of rs2228570 were closely associated with a poor response to treatment and a higher risk of myelodysplastic syndrome/acute leukemia transformation, while CT carriers more easily evolved to overt paroxysmal nocturnal hemoglobinuria. 27018192

2016
dbSNP: rs781517199
rs781517199
UBE2V1 ; TMEM189-UBE2V1
0.010 GeneticVariation BEFREE Here, point mutations of the AML1 gene, V105ter (single-letter amino acid code) and R139G, (single-letter amino acid codes) were identified in 2 cases of myelodysplastic syndrome (MDS) by means of the reverse transcriptase-polymerase chain reaction single-strand conformation polymorphism method. 11049997

2000
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: rs371769427
rs371769427
U2AF1
0.850 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
0.850 GeneticVariation BEFREE MacroH2A1.1 mRNA levels are significantly decreased in patients with low-risk MDS presenting with chromosomal 5q deletion and myeloid cytopenias and tend to be decreased in MDS patients carrying the U2AF1 S34F mutation. 31439048

2019
dbSNP: rs371769427
rs371769427
U2AF1
A 0.850 GeneticVariation CLINVAR Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression. 23861105

2013
dbSNP: rs371769427
rs371769427
U2AF1
A 0.850 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs371769427
rs371769427
U2AF1
0.850 GeneticVariation BEFREE We infer that U2AF1 S34 mutations characterize a distinct subgroup of MDS: younger age of onset and differential associations with particular cytogenetic aberrations depending on specific mutations [S34Y to +8; S34F to +8 and del(20q)]. 28938223

2017
dbSNP: rs371769427
rs371769427
U2AF1
0.850 GeneticVariation BEFREE Taken together, our results demonstrate that ATR may represent a novel therapeutic target in patients with MDS carrying the U2AF1(S34F) mutation and potentially other malignancies harboring spliceosome mutations.<b>Significance:</b> This study provides preclinical evidence that patients with MDS or other myeloid malignancies driven by spliceosome mutations may benefit from ATR inhibition to exploit the R loop-associated vulnerability induced by perturbations in splicing.<i></i>. 30054334

2018
dbSNP: rs371769427
rs371769427
U2AF1
0.850 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: rs371769427
rs371769427
U2AF1
T 0.850 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs371769427
rs371769427
U2AF1
0.850 GeneticVariation UNIPROT

dbSNP: rs371246226
rs371246226
U2AF1
0.710 GeneticVariation UNIPROT 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
0.710 GeneticVariation UNIPROT Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. 22158538

2011
dbSNP: rs371246226
rs371246226
U2AF1
0.710 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: rs11540652
rs11540652
TP53
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs11540652
rs11540652
TP53
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs11540652
rs11540652
TP53
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016