SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		A 0.700 CausalMutation CLINVAR Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective. 25852444 2015
dbSNP: rs1057519594
rs1057519594
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		CT 0.700 CausalMutation CLINVAR Refining analyses of copy number variation identifies specific genes associated with developmental delay. 25217958 2014
dbSNP: rs267607042
rs267607042
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		A 0.700 CausalMutation CLINVAR De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
dbSNP: rs606231269
rs606231269
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		G 0.700 CausalMutation CLINVAR
dbSNP: rs606231270
rs606231270
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		G 0.700 CausalMutation CLINVAR
dbSNP: rs606231271
rs606231271
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		T 0.700 CausalMutation CLINVAR
dbSNP: rs606231272
rs606231272
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		T 0.700 CausalMutation CLINVAR
dbSNP: rs606231273
rs606231273
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		T 0.700 CausalMutation CLINVAR
dbSNP: rs672601342
rs672601342
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C4015141
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		A 0.700 CausalMutation CLINVAR