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: 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
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 0
dbSNP: rs606231270
rs606231270
1.000 18 44952372 stop gained C/G snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 0
dbSNP: rs606231271
rs606231271
1.000 18 44701771 frameshift variant C/- delins
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 0
dbSNP: rs606231272
rs606231272
0.925 0.240 18 44951213 stop gained C/T snv
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
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
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
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: 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: 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
dbSNP: rs1057519594
rs1057519594
1.000 18 44951356 frameshift variant -/T ins
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: 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