Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371769427
rs371769427
U2AF1
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.850 GeneticVariation UNIPROT

dbSNP: rs387906631
rs387906631
GATA2
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.820 GeneticVariation UNIPROT We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. 21892162

2011
dbSNP: rs371246226
rs371246226
U2AF1
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		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
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.710 GeneticVariation UNIPROT Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. 22158538

2011
dbSNP: rs267607040
rs267607040
SETBP1
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 GeneticVariation UNIPROT Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. 23889083

2013
dbSNP: rs267607040
rs267607040
SETBP1
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 GeneticVariation UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668

2013
dbSNP: rs267607042
rs267607042
SETBP1
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 GeneticVariation UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668

2013
dbSNP: rs267607042
rs267607042
SETBP1
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 GeneticVariation UNIPROT Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression. 23889083

2013