SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519594
rs1057519594 		1.000 18 44951356 frameshift variant -/T ins
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 1.000 1 2014 2014
dbSNP: rs1555706391
rs1555706391 		1.000 18 44950745 frameshift variant A/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 11 2008 2017
dbSNP: rs1555706391
rs1555706391 		1.000 18 44950745 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2008 2017
dbSNP: rs606231269
rs606231269 		1.000 18 44951803 frameshift variant A/- delins
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs267607041
rs267607041 		1.000 0.240 18 44951943 missense variant A/C snv
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2010 2010
dbSNP: rs6507583
rs6507583 		1.000 0.080 18 44819625 intron variant A/G snv 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2017
dbSNP: rs11874040
rs11874040 		18 45016031 intron variant A/G snv 0.29
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs11874040
rs11874040 		18 45016031 intron variant A/G snv 0.29
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs606231271
rs606231271 		1.000 18 44701771 frameshift variant C/- delins
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs797045952
rs797045952 		1.000 0.240 18 44951160 frameshift variant C/- delins
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs606231270
rs606231270 		1.000 18 44952372 stop gained C/G snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs10853525
rs10853525 		18 44856687 intron variant C/T snv 0.35
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 1 2016 2016
dbSNP: rs16978240
rs16978240 		18 44969292 intron variant C/T snv 9.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs991014
rs991014 		18 44859921 intron variant C/T snv 0.35
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests 		0.700 1.000 1 2010 2010
dbSNP: rs991014
rs991014 		18 44859921 intron variant C/T snv 0.35
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 1 2016 2016
dbSNP: rs606231272
rs606231272 		0.925 0.240 18 44951213 stop gained C/T snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs606231272
rs606231272 		0.925 0.240 18 44951213 stop gained C/T snv
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs606231273
rs606231273 		0.925 0.240 18 44951216 stop gained C/T snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 0
dbSNP: rs606231273
rs606231273 		0.925 0.240 18 44951216 stop gained C/T snv
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs778181199
rs778181199 		1.000 0.080 18 44952824 missense variant C/T snv 2.0E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs267607040
rs267607040 		0.851 0.320 18 44951948 missense variant G/A snv
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		Neoplasms; Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2020
dbSNP: rs267607040
rs267607040 		0.851 0.320 18 44951948 missense variant G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 2 2013 2013
dbSNP: rs267607040
rs267607040 		0.851 0.320 18 44951948 missense variant G/A snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.700 1.000 2 2013 2013
dbSNP: rs267607040
rs267607040 		0.851 0.320 18 44951948 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 2 2013 2014
dbSNP: rs17782904
rs17782904 		0.925 0.120 18 44733745 intron variant G/A snv 0.18
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		Cardiovascular Diseases 0.700 1.000 1 2016 2016