TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
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: rs74315522
rs74315522
1.000 0.200 22 19764224 missense variant C/G snv
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 4 2003 2016
dbSNP: rs1555896474
rs1555896474
1.000 22 19765900 splice acceptor variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 10 1992 2016
dbSNP: rs28939675
rs28939675
0.882 0.200 22 19763273 missense variant T/A snv
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 2003 2007
dbSNP: rs41298838
rs41298838
1.000 0.200 22 19765921 missense variant G/A;T snv 5.2E-03
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 2 2001 2016
dbSNP: rs1978060
rs1978060
0.925 0.040 22 19762002 intron variant A/G snv 0.64
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2019 2019
dbSNP: rs1978060
rs1978060
0.925 0.040 22 19762002 intron variant A/G snv 0.64
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2238776
rs2238776
1.000 0.080 22 19770369 intron variant G/A;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2238776
rs2238776
1.000 0.080 22 19770369 intron variant G/A;T snv
CUI: C2697758
Disease: Interleukin 10 Measurement
Interleukin 10 Measurement
0.700 1.000 1 2012 2012
dbSNP: rs41297816
rs41297816
1.000 0.040 22 19776455 intron variant A/G snv 0.28
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs1445910672
rs1445910672
1.000 0.080 22 19761255 stop gained G/A;T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1555895466
rs1555895466
1.000 0.200 22 19761162 stop gained A/T snv
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs28939675
rs28939675
0.882 0.200 22 19763273 missense variant T/A snv
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
0.700 0
dbSNP: rs28939675
rs28939675
0.882 0.200 22 19763273 missense variant T/A snv
CONOTRUNCAL HEART MALFORMATIONS (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs12165908
rs12165908
1.000 0.040 22 19777658 intron variant G/C snv 0.20
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1274480565
rs1274480565
0.925 0.120 22 19761154 missense variant C/T snv 7.0E-06
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1274480565
rs1274480565
0.925 0.120 22 19761154 missense variant C/T snv 7.0E-06
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1329122220
rs1329122220
1.000 0.080 22 19766433 missense variant C/A snv 2.4E-05
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs41298006
rs41298006
0.925 0.080 22 19779119 intron variant G/A snv 5.9E-04
CUI: C3274516
Disease: Single Ventricle Defect
Single Ventricle Defect
0.010 1.000 1 2019 2019
dbSNP: rs41298006
rs41298006
0.925 0.080 22 19779119 intron variant G/A snv 5.9E-04
CUI: C0152424
Disease: Common ventricle
Common ventricle
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs749275495
rs749275495
0.882 0.120 22 19764273 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs749275495
rs749275495
0.882 0.120 22 19764273 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs749275495
rs749275495
0.882 0.120 22 19764273 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018