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: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1292772
Disease:
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		0.020 GeneticVariation BEFREE In the patient diagnosed with aCML in bone marrow study, two CSF3R mutations, (T618I and Y779*) a SETBP1 mutation (G870S) and an U2AF1 mutation (Q157P), were identified by high-coverage next-generation sequencing. 31692115 2020
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
dbSNP: rs267607038
rs267607038
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C3151520
Disease:
Early severe fetal akinesia sequence 		C 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs267607038
rs267607038
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0003886
Disease:
Arthrogryposis 		C 0.700 CausalMutation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
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: rs11874040
rs11874040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 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: 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: rs9807656
rs9807656
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs1276250
rs1276250
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0002170
Disease:
Alopecia 		C 0.700 GeneticVariation GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496 2017
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496 2017
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		A 0.700 CausalMutation CLINVAR Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. 28346496 2017
dbSNP: rs6507583
rs6507583
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs9954058
rs9954058
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0678222
Disease:
Breast Carcinoma 		C 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
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: rs17782904
rs17782904
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0010051
Disease:
Coronary Aneurysm 		T 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease. 27171184 2016
dbSNP: rs17782904
rs17782904
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome 		T 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease. 27171184 2016
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: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR West syndrome in a patient with Schinzel-Giedion syndrome. 25028416 2015
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. 25663181 2015
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR West syndrome in a patient with Schinzel-Giedion syndrome. 25028416 2015
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. 25663181 2015
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		A 0.700 CausalMutation CLINVAR Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. 25663181 2015