Gene: TBX5 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3825214
rs3825214
TBX5
8 0.851 0.080 12 114357638 intron variant G/A snv 0.77 0.730 1.000 4 2012 2017
dbSNP: rs883079
rs883079
TBX5
3 1.000 0.080 12 114355435 3 prime UTR variant C/G;T snv 1.8E-05; 0.61 0.710 1.000 5 2016 2018
dbSNP: rs7312625
rs7312625
TBX5
3 1.000 0.080 12 114362169 intron variant G/A snv 0.71 0.010 1.000 1 2016 2016