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: 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: 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: 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