Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs41298838
rs41298838
TBX1
1.000 0.200 22 19765921 missense variant G/A;T snv 5.2E-03
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.700 1.000 2 2001 2016