Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
0.800 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
dbSNP: rs267607039
rs267607039
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
0.800 GeneticVariation UNIPROT SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations. 23628959 2013
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.800 GeneticVariation CLINVAR Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. 23222956 2013
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. 21371013 2011
dbSNP: rs267607038
rs267607038
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
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 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 CausalMutation CLINVAR 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: rs267607041
rs267607041
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR 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 CausalMutation CLINVAR 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
0.800 CausalMutation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213 2008
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213 2008
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. 18398855 2008
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
0.800 CausalMutation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213 2008
dbSNP: rs267607038
rs267607038
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.800 GeneticVariation UNIPROT
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1292772
Disease:
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.710 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: rs267607040
rs267607040
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1292772
Disease:
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
0.710 GeneticVariation UNIPROT
dbSNP: rs6507583
rs6507583
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0678222
Disease:
Breast Carcinoma
0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2018
dbSNP: rs9954058
rs9954058
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0678222
Disease:
Breast Carcinoma
0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2018
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 2017
dbSNP: rs17782904
rs17782904
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026691
Disease:
Mucocutaneous Lymph Node Syndrome
0.700 GeneticVariation GWASCAT Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease. 27171184 2017