Source: UNIPROT

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
dbSNP: rs28939675
rs28939675
TBX1
0.882 0.200 22 19763273 missense variant T/A snv
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.700 1.000 2 2003 2007
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
dbSNP: rs28939675
rs28939675
TBX1
0.882 0.200 22 19763273 missense variant T/A snv
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 0