TBX20, T-box transcription factor 20, 57057

N. diseases: 45; N. variants: 17
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: rs137852954
rs137852954 		0.925 0.080 7 35248766 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2007 2010
dbSNP: rs267607106
rs267607106 		0.925 0.080 7 35249968 missense variant G/C snv
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2007 2010
dbSNP: rs12154802
rs12154802 		1.000 0.040 7 35217909 intron variant G/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs336284
rs336284 		7 35254361 upstream gene variant A/G snv 0.53
CUI: C0038661
Disease: Suicide
Suicide 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs57812663
rs57812663 		7 35236751 intron variant G/A snv 0.37
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs58437978
rs58437978 		7 35218665 intron variant T/C snv 0.42
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 1 2016 2016
dbSNP: rs6959887
rs6959887 		7 35255754 upstream gene variant A/G snv 0.40
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs137852955
rs137852955 		0.925 0.080 7 35245020 stop gained G/A snv
CUI: C1969657
Disease: Atrial Septal Defect 4
Atrial Septal Defect 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1554284604
rs1554284604 		0.882 0.120 7 35204478 frameshift variant G/- delins
CUI: C0344963
Disease: Right hypoplastic heart syndrome
Right hypoplastic heart syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554284604
rs1554284604 		0.882 0.120 7 35204478 frameshift variant G/- delins
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1554284604
rs1554284604 		0.882 0.120 7 35204478 frameshift variant G/- delins
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs10235849
rs10235849 		1.000 0.040 7 35255752 upstream gene variant T/A snv 0.36
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs111862418
rs111862418 		7 35204548 missense variant A/C;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs137852954
rs137852954 		0.925 0.080 7 35248766 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs137852955
rs137852955 		0.925 0.080 7 35245020 stop gained G/A snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs267607106
rs267607106 		0.925 0.080 7 35249968 missense variant G/C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3999941
rs3999941 		1.000 0.040 7 35240926 missense variant A/G snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3999950
rs3999950 		7 35212128 intron variant C/T snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4720169
rs4720169 		1.000 0.040 7 35247689 intron variant G/A snv 0.53
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4720169
rs4720169 		1.000 0.040 7 35247689 intron variant G/A snv 0.53
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs483352999
rs483352999 		7 35202590 missense variant A/C snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs483353002
rs483353002 		1.000 0.040 7 35241035 splice region variant T/G snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs764328696
rs764328696 		1.000 7 35248696 missense variant C/G;T snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs764328696
rs764328696 		1.000 7 35248696 missense variant C/G;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2014 2014
dbSNP: rs764328696
rs764328696 		1.000 7 35248696 missense variant C/G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014