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: rs74315522
rs74315522
TBX1
1 1.000 0.200 22 19764224 missense variant C/G snv 0.800 1.000 4 2003 2016
dbSNP: rs28939675
rs28939675
TBX1
3 0.882 0.200 22 19763273 missense variant T/A snv 0.700 1.000 2 2003 2007
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2007 2008