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: 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: rs7233512
rs7233512 		18 45015111 intron variant G/A snv 0.37
CUI: C1305855
Disease: Body mass index
Body mass index 		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: 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: 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: 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: 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
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: rs267607040
rs267607040 		0.851 0.320 18 44951948 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
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