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: 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: rs1178702025
rs1178702025
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
0.700 GeneticVariation UNIPROT
dbSNP: rs1555706928
rs1555706928
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0018817
Disease:
Atrial Septal Defects
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555706928
rs1555706928
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C1691215
Disease:
Penile hypospadias
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555706928
rs1555706928
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0039538
Disease:
Teratoma
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555706928
rs1555706928
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C2673410
Disease:
Small midface
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555706928
rs1555706928
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0020295
Disease:
Hydronephrosis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555706928
rs1555706928
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0235946
Disease:
Cerebral atrophy
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555706928
rs1555706928
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0456132
Disease:
Large fontanelle
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555706928
rs1555706928
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0853087
Disease:
Nail abnormality
A 0.700 GeneticVariation CLINVAR
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: C0265227
Disease:
Schinzel-Giedion syndrome
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: C0265227
Disease:
Schinzel-Giedion syndrome
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
dbSNP: rs778181199
rs778181199
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs797045952
rs797045952
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0265227
Disease:
Schinzel-Giedion syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555706391
rs1555706391
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0026827
Disease:
Muscle hypotonia
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 Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. 18398855 2008