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: rs1555223259
rs1555223259
TBX5
3 1.000 0.080 12 114355868 stop gained G/C snv 0.700 1.000 1 2018 2018
dbSNP: rs1555226315
rs1555226315
TBX5
4 0.925 0.120 12 114398639 stop gained C/T snv 0.700 0
dbSNP: rs11067075
rs11067075
TBX5
1 12 114361761 intron variant C/A snv 1.2E-03 0.010 1.000 1 2009 2009