Source: CURATED ×
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: rs41298838
rs41298838
TBX1
1 1.000 0.200 22 19765921 missense variant G/A;T snv 5.2E-03 0.700 1.000 2 2001 2016
dbSNP: rs1555895466
rs1555895466
TBX1
1 1.000 0.200 22 19761162 stop gained A/T snv 0.700 0