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: 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: 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: 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: 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