TBX5, T-box transcription factor 5, 6910

N. diseases: 170; N. variants: 89
Disease: QRS complex feature ×
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: rs3825214
rs3825214 		0.851 0.080 12 114357638 intron variant G/A snv 0.77
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 2 2010 2016
dbSNP: rs883079
rs883079 		1.000 0.080 12 114355435 3 prime UTR variant C/G;T snv 1.8E-05; 0.61
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 1 2016 2016