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: 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: rs1178702025
rs1178702025 		1.000 0.080 18 44951912 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 0
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: rs1276250
rs1276250 		1.000 0.080 18 44860573 intron variant T/C;G snv
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
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: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C0039538
Disease: Teratoma
Teratoma 		Neoplasms 0.700 0
dbSNP: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		0.700 0
dbSNP: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555706928
rs1555706928 		0.851 0.240 18 44951954 missense variant G/A snv
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs16978162
rs16978162 		18 44776250 intron variant G/A;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
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: 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
dbSNP: rs17782904
rs17782904 		0.925 0.120 18 44733745 intron variant G/A snv 0.18
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs267607038
rs267607038 		0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06
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 3 2010 2017
dbSNP: rs267607038
rs267607038 		0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.700 1.000 1 2020 2020
dbSNP: rs267607038
rs267607038 		0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs267607038
rs267607038 		0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2020 2020
dbSNP: rs267607039
rs267607039 		1.000 0.240 18 44951949 missense variant G/A 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