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: rs74315522
rs74315522
TBX1
1.000 0.200 22 19764224 missense variant C/G snv
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.800 1.000 4 2003 2016