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
C 0.800 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: C0265227
Disease:
Schinzel-Giedion syndrome
A 0.800 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: C0265227
Disease:
Schinzel-Giedion syndrome
C 0.800 CausalMutation CLINVAR West syndrome in a patient with Schinzel-Giedion syndrome. 25028416 2015
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
A 0.800 CausalMutation CLINVAR Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 25852444 2015
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
A 0.800 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: 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: rs267607038
rs267607038
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
C 0.800 CausalMutation CLINVAR 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: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
A 0.800 CausalMutation CLINVAR 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
A 0.800 CausalMutation CLINVAR
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs267607041
rs267607041
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
C 0.800 GeneticVariation CLINVAR
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: 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: 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