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