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: rs749275495
rs749275495
TBX1
3 0.882 0.120 22 19764273 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2018 2018