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: rs267607042
rs267607042 		0.851 0.320 18 44951942 missense variant G/A;C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs267607042
rs267607042 		0.851 0.320 18 44951942 missense variant G/A;C snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
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: rs9807656
rs9807656 		18 44766991 intron variant T/C snv 0.12
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		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: rs9954058
rs9954058 		1.000 0.080 18 44831838 intron variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
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: 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: 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: 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: 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: 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: rs672601342
rs672601342 		1.000 18 44950936 stop gained G/A;T snv
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		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