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: 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
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
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
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: 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: rs1057519594
rs1057519594 		1.000 18 44951356 frameshift variant -/T ins
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 		0.700 1.000 1 2014 2014
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: 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: 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: 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: 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