Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894230
rs104894230
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519960
rs1057519960
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

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

2016

dbSNP: rs121434595
rs121434595
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121434596
rs121434596
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

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

2016

dbSNP: rs121913237
rs121913237
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913250
rs121913250
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913500
rs121913500
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs147001633
rs147001633
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs267606870
rs267606870
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs377577594
rs377577594
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs752746786
rs752746786
0.700 CausalMutation CLINVAR Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 25485910

2015

dbSNP: rs121913503
rs121913503
0.700 GeneticVariation CLINVAR IDH1 and IDH2 mutation analysis in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. 21997850

2012

dbSNP: rs377023736
rs377023736
0.700 GeneticVariation CLINVAR Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. 21995386

2011

dbSNP: rs193303018
rs193303018
0.700 CausalMutation CLINVAR Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 20550934

2010

dbSNP: rs193303018
rs193303018
0.700 CausalMutation CLINVAR Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome. 14576046

2004

dbSNP: rs267607040
rs267607040
0.700 GeneticVariation UNIPROT

dbSNP: rs267607042
rs267607042
0.700 GeneticVariation UNIPROT

dbSNP: rs77375493
rs77375493
0.090 GeneticVariation BEFREE Because detailed clinical and hematological characteristics of CBL-mutated cases is lacking, we screened 156 BCR-ABL and JAK2 V617F negative patients with myeloproliferative neoplasms (MPN) and overlap syndromes between myelodysplastic syndrome (MDS) and MPN (MPS/MPN) for mutations in exons 8 and 9 of CBL by denaturing high-performance liquid chromatography and direct sequencing. 23010802

2013

dbSNP: rs77375493
rs77375493
0.090 GeneticVariation BEFREE JAK2(V617F) mutation in myelodysplastic syndrome (MDS) with del(5q) arises in genetically discordant clones. 19819015

2010

dbSNP: rs77375493
rs77375493
0.090 GeneticVariation BEFREE To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 syndrome, we analyzed bone marrow samples of 12 patients, including 10 patients with acute myeloid leukemia and 2 patients with a myelodysplastic syndrome, associated with either inv(3)(q21;q26) or t(3;3)(q21;q26). 20153505

2010

dbSNP: rs77375493
rs77375493
0.090 GeneticVariation BEFREE TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 patients with myeloproliferative disorders (12%) (with or without the JAK2 V617F mutation), in 5 of 21 patients with secondary AML (24%), and in 2 of 9 patients with chronic myelomonocytic leukemia (22%). 19474426

2009

dbSNP: rs77375493
rs77375493
0.090 GeneticVariation BEFREE We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML). 18030353

2008

dbSNP: rs77375493
rs77375493
0.090 GeneticVariation BEFREE We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation. 18479730

2008