SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607038
rs267607038
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs267607039
rs267607039
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs267607041
rs267607041
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome 		0.800 GeneticVariation UNIPROT De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs10853525
rs10853525
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0429097
Disease:
QRS complex feature 		0.700 GeneticVariation GWASCAT 52 Genetic Loci Influencing Myocardial Mass. 27659466 2016
dbSNP: rs1178702025
rs1178702025
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic 		0.700 GeneticVariation UNIPROT
dbSNP: rs11874040
rs11874040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs16978162
rs16978162
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs16978240
rs16978240
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs267607038
rs267607038
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic 		0.700 GeneticVariation UNIPROT Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.700 GeneticVariation UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668 2013
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C3463824
Disease:
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
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668 2013
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic 		0.700 GeneticVariation UNIPROT Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic 		0.700 GeneticVariation UNIPROT Managing children with chronic myeloid leukaemia (CML): recommendations for the management of CML in children and young people up to the age of 18 years. 24976289 2014
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		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: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia 		0.700 GeneticVariation UNIPROT Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. 23832011 2013
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME 		0.700 GeneticVariation UNIPROT SETBP1 mutation analysis in 944 patients with MDS and AML. 23648668 2013
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic 		0.700 GeneticVariation UNIPROT Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C3463824
Disease:
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: rs7233512
rs7233512
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs778181199
rs778181199
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs991014
rs991014
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0429097
Disease:
QRS complex feature 		0.700 GeneticVariation GWASCAT 52 Genetic Loci Influencing Myocardial Mass. 27659466 2016
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1292772
Disease:
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.020 GeneticVariation BEFREE We performed exome sequencing of eight aCMLs and identified somatic alterations of SETBP1 (encoding a p.Gly870Ser alteration) in two cases. 23222956 2013