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: 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: 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: 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