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: 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: 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: rs1555706928
rs1555706928
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0018817
Disease:
Atrial Septal Defects 		A 0.700 GeneticVariation CLINVAR
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: 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: 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: rs6507583
rs6507583
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0678222
Disease:
Breast Carcinoma 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625 2015
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: rs1555706928
rs1555706928
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0235946
Disease:
Cerebral atrophy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs778181199
rs778181199
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT
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: 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 Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. 21037274 2011
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
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: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Somatic SETBP1 mutations in myeloid malignancies. 23832012 2013
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. 18398855 2008
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Refining analyses of copy number variation identifies specific genes associated with developmental delay. 25217958 2014
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
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: 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: 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