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: 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 4 2010 2017
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: 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: 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: rs267607042
rs267607042
0.851 0.320 18 44951942 missense variant G/A;C snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
0.700 1.000 4 2010 2017
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: rs267607042
rs267607042
0.851 0.320 18 44951942 missense variant G/A;C snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
Hemic and Lymphatic Diseases 0.700 1.000 2 2013 2013
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: 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
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: 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
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