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: 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: 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: 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: rs606231270
rs606231270
1.000 18 44952372 stop gained C/G snv
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: 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: 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: rs267607040
rs267607040
0.851 0.320 18 44951948 missense variant G/A snv
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